rs267606861
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 6 | Tourette Syndrome mutation |
(A;G) | 6 | Tourette Syndrome mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 50252520 |
Gene | HDC |
is a | snp |
is | mentioned by |
dbSNP | rs267606861 |
dbSNP (classic) | rs267606861 |
ClinGen | rs267606861 |
ebi | rs267606861 |
HLI | rs267606861 |
Exac | rs267606861 |
Gnomad | rs267606861 |
Varsome | rs267606861 |
LitVar | rs267606861 |
Map | rs267606861 |
PheGenI | rs267606861 |
Biobank | rs267606861 |
1000 genomes | rs267606861 |
hgdp | rs267606861 |
ensembl | rs267606861 |
geneview | rs267606861 |
scholar | rs267606861 |
rs267606861 | |
pharmgkb | rs267606861 |
gwascentral | rs267606861 |
openSNP | rs267606861 |
23andMe | rs267606861 |
SNPshot | rs267606861 |
SNPdbe | rs267606861 |
MSV3d | rs267606861 |
GWAS Ctlg | rs267606861 |
Max Magnitude | 6 |
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 20445167]
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, |