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NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003313338.2

Allele description [Variation Report for NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)]

NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)

Gene:
PTK2:protein tyrosine kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)
HGVS:
  • NC_000008.11:g.140700950G>A
  • NG_029467.2:g.305364C>T
  • NM_001199649.2:c.2440C>T
  • NM_001316342.2:c.2140C>T
  • NM_001352694.2:c.2440C>T
  • NM_001352695.2:c.2542C>T
  • NM_001352696.2:c.2140C>T
  • NM_001352697.2:c.2695C>T
  • NM_001352698.2:c.2602C>T
  • NM_001352699.2:c.2563C>T
  • NM_001352700.2:c.2563C>T
  • NM_001352701.2:c.2563C>T
  • NM_001352702.2:c.2563C>TMANE SELECT
  • NM_001352703.2:c.2563C>T
  • NM_001352704.2:c.2542C>T
  • NM_001352705.2:c.2518C>T
  • NM_001352706.2:c.2479C>T
  • NM_001352707.2:c.2479C>T
  • NM_001352708.2:c.2479C>T
  • NM_001352709.2:c.2479C>T
  • NM_001352710.2:c.2479C>T
  • NM_001352711.2:c.2476C>T
  • NM_001352712.2:c.2563C>T
  • NM_001352713.2:c.2461C>T
  • NM_001352714.2:c.2461C>T
  • NM_001352715.2:c.2458C>T
  • NM_001352716.2:c.2455C>T
  • NM_001352717.2:c.2458C>T
  • NM_001352718.2:c.2440C>T
  • NM_001352719.2:c.2440C>T
  • NM_001352720.2:c.2440C>T
  • NM_001352721.2:c.2479C>T
  • NM_001352722.2:c.2479C>T
  • NM_001352723.2:c.2479C>T
  • NM_001352724.2:c.2479C>T
  • NM_001352725.2:c.2440C>T
  • NM_001352726.2:c.2371C>T
  • NM_001352727.2:c.2479C>T
  • NM_001352728.2:c.2332C>T
  • NM_001352729.2:c.2371C>T
  • NM_001352730.2:c.2224C>T
  • NM_001352731.2:c.2224C>T
  • NM_001352732.2:c.2224C>T
  • NM_001352733.2:c.2203C>T
  • NM_001352734.2:c.2224C>T
  • NM_001352735.2:c.2161C>T
  • NM_001352736.2:c.2155C>T
  • NM_001352737.2:c.2203C>T
  • NM_001352738.2:c.2140C>T
  • NM_001352739.2:c.2122C>T
  • NM_001352740.2:c.2119C>T
  • NM_001352741.2:c.2101C>T
  • NM_001352742.2:c.2077C>T
  • NM_001352743.2:c.2140C>T
  • NM_001352744.2:c.2032C>T
  • NM_001352745.2:c.2014C>T
  • NM_001352746.2:c.1969C>T
  • NM_001352747.2:c.1018C>T
  • NM_001352749.2:c.370C>T
  • NM_001352750.2:c.370C>T
  • NM_001352751.2:c.370C>T
  • NM_001352752.2:c.370C>T
  • NM_001387584.1:c.2101C>T
  • NM_001387585.1:c.2440C>T
  • NM_001387586.1:c.2440C>T
  • NM_001387587.1:c.2440C>T
  • NM_001387590.1:c.1993C>T
  • NM_001387591.1:c.2101C>T
  • NM_001387592.1:c.1498C>T
  • NM_001387603.1:c.2101C>T
  • NM_001387604.1:c.1498C>T
  • NM_001387605.1:c.2101C>T
  • NM_001387606.1:c.2122C>T
  • NM_001387607.1:c.2140C>T
  • NM_001387608.1:c.2101C>T
  • NM_001387609.1:c.2101C>T
  • NM_001387610.1:c.1918C>T
  • NM_001387611.1:c.2119C>T
  • NM_001387612.1:c.2101C>T
  • NM_001387613.1:c.2101C>T
  • NM_001387614.1:c.2440C>T
  • NM_001387615.1:c.2371C>T
  • NM_001387616.1:c.1498C>T
  • NM_001387617.1:c.1498C>T
  • NM_001387618.1:c.2101C>T
  • NM_001387619.1:c.2332C>T
  • NM_001387620.1:c.2140C>T
  • NM_001387621.1:c.1498C>T
  • NM_001387622.1:c.2458C>T
  • NM_001387623.1:c.2101C>T
  • NM_001387624.1:c.2455C>T
  • NM_001387625.1:c.2440C>T
  • NM_001387627.1:c.2458C>T
  • NM_001387628.1:c.2440C>T
  • NM_001387629.1:c.1516C>T
  • NM_001387630.1:c.1918C>T
  • NM_001387631.1:c.2455C>T
  • NM_001387632.1:c.2440C>T
  • NM_001387633.1:c.2461C>T
  • NM_001387634.1:c.2458C>T
  • NM_001387635.1:c.1993C>T
  • NM_001387636.1:c.2440C>T
  • NM_001387637.1:c.2440C>T
  • NM_001387638.1:c.2440C>T
  • NM_001387639.1:c.2479C>T
  • NM_001387640.1:c.2563C>T
  • NM_001387641.1:c.2479C>T
  • NM_001387642.1:c.2440C>T
  • NM_001387643.1:c.2572C>T
  • NM_001387644.1:c.2581C>T
  • NM_001387645.1:c.2440C>T
  • NM_001387646.1:c.2572C>T
  • NM_001387647.1:c.2440C>T
  • NM_001387648.1:c.2572C>T
  • NM_001387649.1:c.2611C>T
  • NM_001387650.1:c.2572C>T
  • NM_001387652.1:c.2101C>T
  • NM_001387653.1:c.2332C>T
  • NM_001387654.1:c.2101C>T
  • NM_001387655.1:c.2440C>T
  • NM_001387656.1:c.2440C>T
  • NM_001387657.1:c.2440C>T
  • NM_001387658.1:c.2440C>T
  • NM_001387659.1:c.2440C>T
  • NM_001387660.1:c.2572C>T
  • NM_001387661.1:c.2572C>T
  • NM_001387662.1:c.2572C>T
  • NM_005607.5:c.2506C>T
  • NM_153831.4:c.2440C>T
  • NP_001186578.1:p.Arg814Ter
  • NP_001303271.1:p.Arg714Ter
  • NP_001339623.1:p.Arg814Ter
  • NP_001339624.1:p.Arg848Ter
  • NP_001339625.1:p.Arg714Ter
  • NP_001339626.1:p.Arg899Ter
  • NP_001339627.1:p.Arg868Ter
  • NP_001339628.1:p.Arg855Ter
  • NP_001339629.1:p.Arg855Ter
  • NP_001339630.1:p.Arg855Ter
  • NP_001339631.1:p.Arg855Ter
  • NP_001339632.1:p.Arg855Ter
  • NP_001339633.1:p.Arg848Ter
  • NP_001339634.1:p.Arg840Ter
  • NP_001339635.1:p.Arg827Ter
  • NP_001339636.1:p.Arg827Ter
  • NP_001339637.1:p.Arg827Ter
  • NP_001339638.1:p.Arg827Ter
  • NP_001339639.1:p.Arg827Ter
  • NP_001339640.1:p.Arg826Ter
  • NP_001339641.1:p.Arg855Ter
  • NP_001339642.1:p.Arg821Ter
  • NP_001339643.1:p.Arg821Ter
  • NP_001339644.1:p.Arg820Ter
  • NP_001339645.1:p.Arg819Ter
  • NP_001339646.1:p.Arg820Ter
  • NP_001339647.1:p.Arg814Ter
  • NP_001339648.1:p.Arg814Ter
  • NP_001339649.1:p.Arg814Ter
  • NP_001339650.1:p.Arg827Ter
  • NP_001339651.1:p.Arg827Ter
  • NP_001339652.1:p.Arg827Ter
  • NP_001339653.1:p.Arg827Ter
  • NP_001339654.1:p.Arg814Ter
  • NP_001339655.1:p.Arg791Ter
  • NP_001339656.1:p.Arg827Ter
  • NP_001339657.1:p.Arg778Ter
  • NP_001339658.1:p.Arg791Ter
  • NP_001339659.1:p.Arg742Ter
  • NP_001339660.1:p.Arg742Ter
  • NP_001339661.1:p.Arg742Ter
  • NP_001339662.1:p.Arg735Ter
  • NP_001339663.1:p.Arg742Ter
  • NP_001339664.1:p.Arg721Ter
  • NP_001339665.1:p.Arg719Ter
  • NP_001339666.1:p.Arg735Ter
  • NP_001339667.1:p.Arg714Ter
  • NP_001339668.1:p.Arg708Ter
  • NP_001339669.1:p.Arg707Ter
  • NP_001339670.1:p.Arg701Ter
  • NP_001339671.1:p.Arg693Ter
  • NP_001339672.1:p.Arg714Ter
  • NP_001339673.1:p.Arg678Ter
  • NP_001339674.1:p.Arg672Ter
  • NP_001339675.1:p.Arg657Ter
  • NP_001339676.1:p.Arg340Ter
  • NP_001339678.1:p.Arg124Ter
  • NP_001339679.1:p.Arg124Ter
  • NP_001339680.1:p.Arg124Ter
  • NP_001339681.1:p.Arg124Ter
  • NP_001374513.1:p.Arg701Ter
  • NP_001374514.1:p.Arg814Ter
  • NP_001374515.1:p.Arg814Ter
  • NP_001374516.1:p.Arg814Ter
  • NP_001374519.1:p.Arg665Ter
  • NP_001374520.1:p.Arg701Ter
  • NP_001374521.1:p.Arg500Ter
  • NP_001374532.1:p.Arg701Ter
  • NP_001374533.1:p.Arg500Ter
  • NP_001374534.1:p.Arg701Ter
  • NP_001374535.1:p.Arg708Ter
  • NP_001374536.1:p.Arg714Ter
  • NP_001374537.1:p.Arg701Ter
  • NP_001374538.1:p.Arg701Ter
  • NP_001374539.1:p.Arg640Ter
  • NP_001374540.1:p.Arg707Ter
  • NP_001374541.1:p.Arg701Ter
  • NP_001374542.1:p.Arg701Ter
  • NP_001374543.1:p.Arg814Ter
  • NP_001374544.1:p.Arg791Ter
  • NP_001374545.1:p.Arg500Ter
  • NP_001374546.1:p.Arg500Ter
  • NP_001374547.1:p.Arg701Ter
  • NP_001374548.1:p.Arg778Ter
  • NP_001374549.1:p.Arg714Ter
  • NP_001374550.1:p.Arg500Ter
  • NP_001374551.1:p.Arg820Ter
  • NP_001374552.1:p.Arg701Ter
  • NP_001374553.1:p.Arg819Ter
  • NP_001374554.1:p.Arg814Ter
  • NP_001374556.1:p.Arg820Ter
  • NP_001374557.1:p.Arg814Ter
  • NP_001374558.1:p.Arg506Ter
  • NP_001374559.1:p.Arg640Ter
  • NP_001374560.1:p.Arg819Ter
  • NP_001374561.1:p.Arg814Ter
  • NP_001374562.1:p.Arg821Ter
  • NP_001374563.1:p.Arg820Ter
  • NP_001374564.1:p.Arg665Ter
  • NP_001374565.1:p.Arg814Ter
  • NP_001374566.1:p.Arg814Ter
  • NP_001374567.1:p.Arg814Ter
  • NP_001374568.1:p.Arg827Ter
  • NP_001374569.1:p.Arg855Ter
  • NP_001374570.1:p.Arg827Ter
  • NP_001374571.1:p.Arg814Ter
  • NP_001374572.1:p.Arg858Ter
  • NP_001374573.1:p.Arg861Ter
  • NP_001374574.1:p.Arg814Ter
  • NP_001374575.1:p.Arg858Ter
  • NP_001374576.1:p.Arg814Ter
  • NP_001374577.1:p.Arg858Ter
  • NP_001374578.1:p.Arg871Ter
  • NP_001374579.1:p.Arg858Ter
  • NP_001374581.1:p.Arg701Ter
  • NP_001374582.1:p.Arg778Ter
  • NP_001374583.1:p.Arg701Ter
  • NP_001374584.1:p.Arg814Ter
  • NP_001374585.1:p.Arg814Ter
  • NP_001374586.1:p.Arg814Ter
  • NP_001374587.1:p.Arg814Ter
  • NP_001374588.1:p.Arg814Ter
  • NP_001374589.1:p.Arg858Ter
  • NP_001374590.1:p.Arg858Ter
  • NP_001374591.1:p.Arg858Ter
  • NP_005598.3:p.Arg836Ter
  • NP_722560.1:p.Arg814Ter
  • NC_000008.10:g.141711049G>A
  • NM_153831.3:c.2440C>T
  • NR_148036.2:n.2730C>T
  • NR_148037.2:n.2761C>T
  • NR_148038.2:n.2479C>T
  • NR_148039.2:n.2371C>T
  • NR_170671.1:n.2351C>T
  • NR_170672.1:n.2518C>T
  • NR_170673.1:n.2630C>T
Protein change:
R124*
Molecular consequence:
  • NR_148036.2:n.2730C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148037.2:n.2761C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148038.2:n.2479C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148039.2:n.2371C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170671.1:n.2351C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170672.1:n.2518C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170673.1:n.2630C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001199649.2:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001316342.2:c.2140C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352694.2:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352695.2:c.2542C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352696.2:c.2140C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352697.2:c.2695C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352698.2:c.2602C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352699.2:c.2563C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352700.2:c.2563C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352701.2:c.2563C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352702.2:c.2563C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352703.2:c.2563C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352704.2:c.2542C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352705.2:c.2518C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352706.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352707.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352708.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352709.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352710.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352711.2:c.2476C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352712.2:c.2563C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352713.2:c.2461C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352714.2:c.2461C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352715.2:c.2458C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352716.2:c.2455C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352717.2:c.2458C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352718.2:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352719.2:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352720.2:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352721.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352722.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352723.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352724.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352725.2:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352726.2:c.2371C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352727.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352728.2:c.2332C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352729.2:c.2371C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352730.2:c.2224C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352731.2:c.2224C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352732.2:c.2224C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352733.2:c.2203C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352734.2:c.2224C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352735.2:c.2161C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352736.2:c.2155C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352737.2:c.2203C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352738.2:c.2140C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352739.2:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352740.2:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352741.2:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352742.2:c.2077C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352743.2:c.2140C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352744.2:c.2032C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352745.2:c.2014C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352746.2:c.1969C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352747.2:c.1018C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352749.2:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352750.2:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352751.2:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352752.2:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387584.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387585.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387586.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387587.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387590.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387591.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387592.1:c.1498C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387603.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387604.1:c.1498C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387605.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387606.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387607.1:c.2140C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387608.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387609.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387610.1:c.1918C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387611.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387612.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387613.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387614.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387615.1:c.2371C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387616.1:c.1498C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387617.1:c.1498C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387618.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387619.1:c.2332C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387620.1:c.2140C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387621.1:c.1498C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387622.1:c.2458C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387623.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387624.1:c.2455C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387625.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387627.1:c.2458C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387628.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387629.1:c.1516C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387630.1:c.1918C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387631.1:c.2455C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387632.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387633.1:c.2461C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387634.1:c.2458C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387635.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387636.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387637.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387638.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387639.1:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387640.1:c.2563C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387641.1:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387642.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387643.1:c.2572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387644.1:c.2581C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387645.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387646.1:c.2572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387647.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387648.1:c.2572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387649.1:c.2611C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387650.1:c.2572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387652.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387653.1:c.2332C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387654.1:c.2101C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387655.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387656.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387657.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387658.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387659.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387660.1:c.2572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387661.1:c.2572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001387662.1:c.2572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005607.5:c.2506C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153831.4:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Failure to thrive
Synonyms:
Pediatric failure to thrive
Identifiers:
MedGen: C2315100; Human Phenotype Ontology: HP:0001508
Name:
Dental crowding
Identifiers:
MedGen: C0040433; Human Phenotype Ontology: HP:0000678
Name:
High palate
Identifiers:
MedGen: C0240635; Human Phenotype Ontology: HP:0000218
Name:
Hypertonia
Identifiers:
MedGen: C0026826; Human Phenotype Ontology: HP:0001276
Name:
Deeply set eye
Synonyms:
Enophthalmos
Identifiers:
MONDO: MONDO:0001210; MedGen: C0423224; Human Phenotype Ontology: HP:0000490
Name:
Mandibular prognathia
Synonyms:
Habsburg jaw; Hapsburg jaw
Identifiers:
MONDO: MONDO:0008312; MeSH: D008313; MedGen: C0399526; OMIM: 176700; Human Phenotype Ontology: HP:0000303
Name:
Bulbous nose
Identifiers:
MedGen: C0240543; Human Phenotype Ontology: HP:0000414
Name:
Shallow orbits
Identifiers:
MedGen: C1865244; Human Phenotype Ontology: HP:0000586
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004012100HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 24, 2023) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS, SCV004012100.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024