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rs267606861

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Tourette Syndrome mutation
(A;G) 6 Tourette Syndrome mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome15
Position50252520
GeneHDC
is asnp
is mentioned by
dbSNPrs267606861
ebirs267606861
HLIrs267606861
Exacrs267606861
Varsomers267606861
Maprs267606861
PheGenIrs267606861
hapmaprs267606861
1000 genomesrs267606861
hgdprs267606861
ensemblrs267606861
gopubmedrs267606861
geneviewrs267606861
scholarrs267606861
googlers267606861
pharmgkbrs267606861
gwascentralrs267606861
openSNPrs267606861
23andMers267606861
23andMe allrs267606861
SNP Nexus

SNPshotrs267606861
SNPdbers267606861
MSV3drs267606861
GWAS Ctlgrs267606861
Max Magnitude6

rs267606861, also known as c.951G>A, p.Trp317Ter and W317X, is a mutation in the HDC gene on chromosome 15. The HDC gene encodes L-histidine decarboxylase, the rate-limiting enzyme in histamine biosynthesis.

Mutations leading to Tourette syndrome have been quite hard to find, and so far, there is only one mutation known: rs267606861(A). This very rare allele is reported to act as an autosomal dominant mutation, based on an analysis of a two-generation pedigree.[PMID 20445167OA-icon.png]

See also OMIM 142704.0001


ClinVar
Risk rs267606861(A;A)
Alt rs267606861(A;A)
Reference rs267606861(G;G)
Significance Pathogenic
Disease Tourette Syndrome
Variation info
Gene HDC
CLNDBN Tourette Syndrome
Reversed 1
HGVS NC_000015.9:g.50544717C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016047.26,