rs199476153
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAG;GAG) | 0 | common in clinvar |
Make rs199476153(-;-) |
Make rs199476153(-;GAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 35685509 |
Gene | TPM2 |
is a | snp |
is | mentioned by |
dbSNP | rs199476153 |
dbSNP (classic) | rs199476153 |
ClinGen | rs199476153 |
ebi | rs199476153 |
HLI | rs199476153 |
Exac | rs199476153 |
Gnomad | rs199476153 |
Varsome | rs199476153 |
LitVar | rs199476153 |
Map | rs199476153 |
PheGenI | rs199476153 |
Biobank | rs199476153 |
1000 genomes | rs199476153 |
hgdp | rs199476153 |
ensembl | rs199476153 |
geneview | rs199476153 |
scholar | rs199476153 |
rs199476153 | |
pharmgkb | rs199476153 |
gwascentral | rs199476153 |
openSNP | rs199476153 |
23andMe | rs199476153 |
SNPshot | rs199476153 |
SNPdbe | rs199476153 |
MSV3d | rs199476153 |
GWAS Ctlg | rs199476153 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476153(-;-) |
Alt | rs199476153(-;-) |
Reference | Rs199476153(GAG;GAG) |
Significance | Pathogenic |
Disease | Cap myopathy 2 not provided |
Variation | info |
Gene | TPM2 |
CLNDBN | Cap myopathy 2 not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.35685506_35685508delCTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013281.26, RCV000128684.1, |
[PMID 17434307] Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.
[PMID 19345583] Cap disease due to mutation of the beta-tropomyosin gene (TPM2).