CSRP3 Chromosome 11
Cysteine and glycine rich protein 3
Upload your DNA to see your personal genotypes for variants in CSRP3.
What This Gene Does
This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
LIM domain containing
Locus Type
gene with protein product
Location
11p15.1
Ensembl
ENSG00000129170
Associated Conditions (11)
Hypertrophic cardiomyopathy 12
Dilated cardiomyopathy 1M
Cardiovascular phenotype
Hypertrophic cardiomyopathy
See cases
Hypertrophic cardiomyopathy 1
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy
CSRP3-related disorder
Primary dilated cardiomyopathy
Sudden unexplained death
Key Variants
RS104894205
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype
Health Risk
RS112848043
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Cardiovascular phenotype
Health Risk
RS1163785853
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype
Health Risk
RS1187710437
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
Health Risk
RS1216811263
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Cardiovascular phenotype
Health Risk
RS1310679270
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
Health Risk
RS138218523
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 12
Health Risk
RS1408098337
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
Health Risk
RS145073736
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 12
Health Risk
RS1554968150
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 12
Health Risk
RS1565050709
Conflicting classifications of pathogenicity
Cardiomyopathy, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
Health Risk
RS1850502742
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894205 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype |
| RS112848043 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Cardiovascular phenotype |
| RS1163785853 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype |
| RS1187710437 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M |
| RS1216811263 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Cardiovascular phenotype |
| RS1310679270 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS138218523 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 12 |
| RS1408098337 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M |
| RS145073736 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 12 |
| RS1554968150 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 12 |
| RS1565050709 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS1850502742 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS1850523074 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Cardiovascular phenotype |
| RS1850524848 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS185980145 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, Dilated cardiomyopathy 1M |
| RS193922667 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M |
| RS2133508524 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Cardiovascular phenotype |
| RS2494229088 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS397516855 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS397516858 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy |
| RS397516859 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Cardiomyopathy |
| RS45498797 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Cardiomyopathy, Hypertrophic cardiomyopathy 12 |
| RS45550635 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1M, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 12 |
| RS547374738 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype |
| RS727504905 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS746707959 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiomyopathy |
| RS746990436 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M |
| RS748393033 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Cardiomyopathy |
| RS760384315 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS775194825 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype |
| RS869025378 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M |
| RS886048097 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS960577385 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype |
| RS1565053085 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1565053147 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2133516584 | Health Risk | Likely pathogenic | — |
| RS2494220581 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS2494223112 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M |
| RS759269008 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS876657767 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS935867046 | Health Risk | Likely pathogenic | Cardiomyopathy, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS104894204 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 12, Cardiovascular phenotype, Dilated cardiomyopathy 1M |
| RS1336937886 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Cardiovascular phenotype |
| RS1554967541 | Health Risk | Pathogenic | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M |
| RS1554968138 | Health Risk | Pathogenic | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M |
| RS1565050320 | Health Risk | Pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2133511280 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS2133516329 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS2494223132 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12 |
| RS2494223496 | Health Risk | Pathogenic | Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M |