ClinVar

NM_017777.4(MKS1):c.817C>G (p.Gln273Glu)

Gene:

MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58213023 (on Assembly GRCh38)
• Chr17: 56290384 (on Assembly GRCh37)

Preferred name:

NM_017777.4(MKS1):c.817C>G (p.Gln273Glu)

HGVS:

• NC_000017.11:g.58213023G>C
• NG_013032.1:g.11583C>G
• NM_001321268.2:c.208C>G
• NM_001321269.2:c.817C>G
• NM_001330397.2:c.817C>G
• NM_017777.4:c.817C>GMANE SELECT
• NP_001308197.1:p.Gln70Glu
• NP_001308198.1:p.Gln273Glu
• NP_001317326.1:p.Gln273Glu
• NP_060247.2:p.Gln273Glu
• LRG_687t2:c.787C>G
• LRG_687:g.11583C>G
• LRG_687p2:p.Gln263Glu
• NC_000017.10:g.56290384G>C

This HGVS expression did not pass validation

Protein change:

Q273E

Links:

dbSNP: rs1968968283

NCBI 1000 Genomes Browser:

rs1968968283

Molecular consequence:

• NM_001321268.2:c.208C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321269.2:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330397.2:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_017777.4:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]