CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 108; N. variants: 19
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.030 GeneticVariation BEFREE To gain insight into the disease mechanisms involved, we generated a knock-in mouse (KI) model, carrying the well documented HCM-causing CSRP3 mutation C58G. 30048712 2018
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.030 GeneticVariation BEFREE Meta-analysis of rare previously reported CSRP3 variants on HCM probands using ACMG guidelines indicate that only one variation (p.Cys58Gly) could be considered as likely pathogen. 30012424 2018
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.030 GeneticVariation BEFREE In order to gain an insight into the molecular basis of the disease phenotype, we analysed the binding characteristics of wild-type MLP and of the (C58G) mutant MLP that causes hypertrophic cardiomyopathy. 15205937 2004
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Protein depletion was also observed in cellular studies for two further HCM-causing CSRP3 mutations (L44P and S54R/E55G). 30048712 2018
dbSNP: rs267606753
rs267606753
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Protein depletion was also observed in cellular studies for two further HCM-causing CSRP3 mutations (L44P and S54R/E55G). 30048712 2018