RNF13 Chromosome 3
Ring finger protein 13
Upload your DNA to see your personal genotypes for variants in RNF13.
What This Gene Does
The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
3q25.1
Ensembl
ENSG00000082996
Associated Conditions (2)
Developmental and epileptic encephalopathy
73
Key Variants
RS1250628602
Conflicting classifications of pathogenicity
Health Risk
RS1335060938
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy
Health Risk
RS1351664704
Conflicting classifications of pathogenicity
Health Risk
RS140665765
Conflicting classifications of pathogenicity
Health Risk
RS144710366
Conflicting classifications of pathogenicity
Health Risk
RS145759442
Conflicting classifications of pathogenicity
Health Risk
RS149058915
Conflicting classifications of pathogenicity
Health Risk
RS1722347968
Conflicting classifications of pathogenicity
Health Risk
RS200489974
Conflicting classifications of pathogenicity
Health Risk
RS368558129
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy
Health Risk
RS374986410
Conflicting classifications of pathogenicity
Health Risk
RS751728141
Conflicting classifications of pathogenicity
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1250628602 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1335060938 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy |
| RS1351664704 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140665765 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144710366 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145759442 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149058915 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1722347968 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200489974 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368558129 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy |
| RS374986410 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751728141 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775761047 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS972002974 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy |
| RS1559980771 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy |
| RS2108622433 | Health Risk | Likely pathogenic | — |
| RS2473635477 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy |
| RS1559980785 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy |
| RS2473635400 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy |
| RS2108622234 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 73, Developmental and epileptic encephalopathy |