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rs199476153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs199476153(-;-)
Make rs199476153(-;GAG)
ReferenceGRCh38 38.1/141
Chromosome9
Position35685509
GeneTPM2
is asnp
is mentioned by
dbSNPrs199476153
ebirs199476153
HLIrs199476153
Exacrs199476153
Varsomers199476153
Maprs199476153
PheGenIrs199476153
hapmaprs199476153
1000 genomesrs199476153
hgdprs199476153
ensemblrs199476153
gopubmedrs199476153
geneviewrs199476153
scholarrs199476153
googlers199476153
pharmgkbrs199476153
gwascentralrs199476153
openSNPrs199476153
23andMers199476153
23andMe allrs199476153
SNP Nexus

SNPshotrs199476153
SNPdbers199476153
MSV3drs199476153
GWAS Ctlgrs199476153
Max Magnitude0
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 RCV000013281.25, 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).