TCAP, titin-cap, 8557

N. diseases: 49; N. variants: 15
Disease: Cardiomyopathy, Familial Idiopathic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149585781
rs149585781
Entrez Id: 5409;8557
Gene Symbol: PNMT;TCAP
PNMT;TCAP
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation BEFREE Two TCAP mutations, T137I and R153H, were found in patients with HCM, and another TCAP mutation, E132Q, was identified in a patient with DCM. 15582318 2004
dbSNP: rs748358368
rs748358368
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation BEFREE Two TCAP mutations, T137I and R153H, were found in patients with HCM, and another TCAP mutation, E132Q, was identified in a patient with DCM. 15582318 2004