rs397514698

This is a variant in the GNAQ gene that changes a arginine to an glutamine.

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ClinVar annotation

Pathogenic★★★☆
10 submitters6 publications

Angioosteohypertrophic syndrome (KTS); Capillary malformation (CMC); Familial multiple nevi flammei; GNAQ-related disorder; Hemangiomatosis; Melanoma; Segmental undergrowth associated with capillary malformation; Sturge-Weber syndrome (SWS)

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About GNAQ

This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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