RNF168 Chromosome 3
Ring finger protein 168
Upload your DNA to see your personal genotypes for variants in RNF168.
What This Gene Does
This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000163961
Associated Conditions (3)
Inborn genetic diseases
RIDDLE syndrome
RNF168-related disorder
Key Variants
RS148632434
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149298083
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1732043783
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200603619
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS371453745
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS575170766
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755261571
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766109423
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772804181
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS983226027
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1047608955
Likely pathogenic
RIDDLE syndrome, RIDDLE syndrome
Health Risk
RS1203276122
Likely pathogenic
RIDDLE syndrome, RIDDLE syndrome
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148632434 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149298083 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1732043783 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200603619 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371453745 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS575170766 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755261571 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766109423 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772804181 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS983226027 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1047608955 | Health Risk | Likely pathogenic | RIDDLE syndrome, RIDDLE syndrome |
| RS1203276122 | Health Risk | Likely pathogenic | RIDDLE syndrome, RIDDLE syndrome |
| RS371768338 | Health Risk | Likely pathogenic | — |
| RS1423199445 | Health Risk | Pathogenic | — |
| RS1577516447 | Health Risk | Pathogenic | RIDDLE syndrome, RIDDLE syndrome |
| RS1732036148 | Health Risk | Pathogenic | — |
| RS2108644029 | Health Risk | Pathogenic | — |
| RS2108657396 | Health Risk | Pathogenic | — |
| RS2108657437 | Health Risk | Pathogenic | — |
| RS2473960030 | Health Risk | Pathogenic | — |
| RS2473980014 | Health Risk | Pathogenic | — |
| RS2474284589 | Health Risk | Pathogenic | — |
| RS749265205 | Health Risk | Pathogenic | — |
| RS755085531 | Health Risk | Pathogenic | — |
| RS771138989 | Health Risk | Pathogenic | — |
| RS771720993 | Health Risk | Pathogenic | — |
| RS777601326 | Health Risk | Pathogenic | — |
| RS780973141 | Health Risk | Pathogenic | — |
| RS148275050 | Health Risk | Pathogenic/Likely pathogenic | RIDDLE syndrome, RIDDLE syndrome |
| RS201915239 | Health Risk | Pathogenic/Likely pathogenic | RIDDLE syndrome, RNF168-related disorder, RIDDLE syndrome |
| RS375915880 | Health Risk | Pathogenic/Likely pathogenic | RIDDLE syndrome, RIDDLE syndrome |
| RS755314562 | Health Risk | Pathogenic/Likely pathogenic | RIDDLE syndrome, RIDDLE syndrome |