rs80338933
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80338933(C;T) |
| Make rs80338933(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 149026872 |
| Gene | SH3TC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338933 |
| dbSNP (classic) | rs80338933 |
| ClinGen | rs80338933 |
| ebi | rs80338933 |
| HLI | rs80338933 |
| Exac | rs80338933 |
| Gnomad | rs80338933 |
| Varsome | rs80338933 |
| LitVar | rs80338933 |
| Map | rs80338933 |
| PheGenI | rs80338933 |
| Biobank | rs80338933 |
| 1000 genomes | rs80338933 |
| hgdp | rs80338933 |
| ensembl | rs80338933 |
| geneview | rs80338933 |
| scholar | rs80338933 |
| rs80338933 | |
| pharmgkb | rs80338933 |
| gwascentral | rs80338933 |
| openSNP | rs80338933 |
| 23andMe | rs80338933 |
| SNPshot | rs80338933 |
| SNPdbe | rs80338933 |
| MSV3d | rs80338933 |
| GWAS Ctlg | rs80338933 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338933(T;T) |
| Alt | rs80338933(T;T) |
| Reference | Rs80338933(C;C) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease Mononeuropathy of the median nerve Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided SH3TC2-Related Disorders |
| Variation | info |
| Gene | SH3TC2 |
| CLNDBN | Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type IV not provided SH3TC2-Related Disorders |
| Reversed | 1 |
| HGVS | NC_000005.9:g.148406435G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002586.6, RCV000002587.4, RCV000144877.1, RCV000168436.5, RCV000255213.2, RCV000282937.1, |
[PMID 14574644
] Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
[PMID 16924012] Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
