PPP1R13L Chromosome 19
Protein phosphatase 1 regulatory subunit 13 like
Upload your DNA to see your personal genotypes for variants in PPP1R13L.
What This Gene Does
IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000104881
Associated Conditions (7)
Inborn genetic diseases
Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
Cardio-cutaneous syndrome
Multiple congenital anomalies/dysmorphic syndrome
OMIM:607463
Orofacial cleft
Key Variants
RS112730430
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142842464
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS536673957
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS758499040
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779057846
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1290915929
Likely pathogenic
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS1972735240
Likely pathogenic
Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, Primary dilated cardiomyopathy
Health Risk
RS1972986097
Likely pathogenic
Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, Primary dilated cardiomyopathy
Health Risk
RS34338233
Likely pathogenic
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS1114167453
Pathogenic
Cardio-cutaneous syndrome, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, Cardio-cutaneous syndrome
Health Risk
RS2123382133
Pathogenic
Multiple congenital anomalies/dysmorphic syndrome, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, Multiple congenital anomalies/dysmorphic syndrome
Health Risk
RS2123386598
Pathogenic
OMIM:607463, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:607463
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112730430 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142842464 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS536673957 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758499040 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779057846 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1290915929 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1972735240 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, Primary dilated cardiomyopathy |
| RS1972986097 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, Primary dilated cardiomyopathy |
| RS34338233 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1114167453 | Health Risk | Pathogenic | Cardio-cutaneous syndrome, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, Cardio-cutaneous syndrome |
| RS2123382133 | Health Risk | Pathogenic | Multiple congenital anomalies/dysmorphic syndrome, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, Multiple congenital anomalies/dysmorphic syndrome |
| RS2123386598 | Health Risk | Pathogenic | OMIM:607463, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:607463 |
| RS1973093514 | Health Risk | Pathogenic/Likely pathogenic | Primary dilated cardiomyopathy, Orofacial cleft, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities |