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, |
