ClinVar

NM_002617.4(PEX10):c.843G>A (p.Arg281=)

Gene:

PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.32

Genomic location:

• Chr1: 2406553 (on Assembly GRCh38)
• Chr1: 2337992 (on Assembly GRCh37)

Preferred name:

NM_002617.4(PEX10):c.843G>A (p.Arg281=)

HGVS:

• NC_000001.11:g.2406553C>T
• NG_008342.1:g.11019G>A
• NG_016128.1:g.19779C>T
• NM_001374425.1:c.900G>A
• NM_001374426.1:c.468G>A
• NM_001374427.1:c.411G>A
• NM_002617.4:c.843G>AMANE SELECT
• NM_153818.2:c.903G>A
• NP_001361354.1:p.Arg300=
• NP_001361355.1:p.Arg156=
• NP_001361356.1:p.Arg137=
• NP_002608.1:p.Arg281=
• NP_722540.1:p.Arg301=
• NP_722540.1:p.Arg301=
• NC_000001.10:g.2337992C>T
• NM_153818.1:c.903G>A
• NR_164636.1:n.958G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs35082957

NCBI 1000 Genomes Browser:

rs35082957

Molecular consequence:

• NR_164636.1:n.958G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001374425.1:c.900G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374426.1:c.468G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374427.1:c.411G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002617.4:c.843G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153818.2:c.903G>A - synonymous variant - [Sequence Ontology: SO:0001819]