present in Gene: GNAQ
present in Chromosome: 9
Position on Chromosome: 77797577
Alleles of this Variant: C/T
rs397514698 in
GNAQ gene and
Sturge-Weber Syndrome
PMID 23656586 2013 We identified a nonsynonymous single-nucleotide variant (c.548G→A, p.Arg183Gln) in GNAQ in samples of affected tissue from 88% of the participants (23 of 26) with the Sturge-Weber syndrome and from 92% of the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the samples of affected tissue from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from the 6 controls.