rs80338934
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80338934(C;T) |
Make rs80338934(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 149010272 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs80338934 |
dbSNP (classic) | rs80338934 |
ClinGen | rs80338934 |
ebi | rs80338934 |
HLI | rs80338934 |
Exac | rs80338934 |
Gnomad | rs80338934 |
Varsome | rs80338934 |
LitVar | rs80338934 |
Map | rs80338934 |
PheGenI | rs80338934 |
Biobank | rs80338934 |
1000 genomes | rs80338934 |
hgdp | rs80338934 |
ensembl | rs80338934 |
geneview | rs80338934 |
scholar | rs80338934 |
rs80338934 | |
pharmgkb | rs80338934 |
gwascentral | rs80338934 |
openSNP | rs80338934 |
23andMe | rs80338934 |
SNPshot | rs80338934 |
SNPdbe | rs80338934 |
MSV3d | rs80338934 |
GWAS Ctlg | rs80338934 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338934(T;T) |
Alt | rs80338934(T;T) |
Reference | Rs80338934(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | SH3TC2 |
CLNDBN | Charcot-Marie-Tooth disease, type 4C not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.148389835G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002588.4, RCV000218266.2, |
[PMID 16326826] A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
[PMID 17470135] The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.