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rs104894504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894504(C;C)
Make rs104894504(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position63057028
GeneTPM1
is asnp
is mentioned by
dbSNPrs104894504
ebirs104894504
HLIrs104894504
Exacrs104894504
Varsomers104894504
Maprs104894504
PheGenIrs104894504
hapmaprs104894504
1000 genomesrs104894504
hgdprs104894504
ensemblrs104894504
gopubmedrs104894504
geneviewrs104894504
scholarrs104894504
googlers104894504
pharmgkbrs104894504
gwascentralrs104894504
openSNPrs104894504
23andMers104894504
23andMe allrs104894504
SNP Nexus

SNPshotrs104894504
SNPdbers104894504
MSV3drs104894504
GWAS Ctlgrs104894504
Max Magnitude0
OMIM191010
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894504(C;C)
Alt rs104894504(C;C)
Reference rs104894504(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 3 not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene TPM1
CLNDBN Familial hypertrophic cardiomyopathy 3 not provided Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.63349227T>C
CLNSRC Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant
CLNACC RCV000013273.24, RCV000159356.1, RCV000211870.1,


[PMID 11136687] Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.


[PMID 12858563] Molecular epidemiology of hypertrophic cardiomyopathy.