TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Cardiomyopathy, Hypertrophic, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504245
rs727504245
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		0.710 GeneticVariation BEFREE We have identified a novel missense mutation in exon 9 (Ala104Val) of the cTnT gene in a patient with familial HCM. 9140840 1997
dbSNP: rs727504245
rs727504245
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.710 GeneticVariation CLINVAR