RNF113A Chromosome X
Ring finger protein 113A
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What This Gene Does
This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers CCCH-type|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000125352
Associated Conditions (3)
Trichothiodystrophy 5
nonphotosensitive
Abnormal cerebral morphology
Key Variants
RS199822951
Conflicting classifications of pathogenicity
Health Risk
RS2147812233
Conflicting classifications of pathogenicity
Trichothiodystrophy 5, nonphotosensitive, Trichothiodystrophy 5
Health Risk
RS1064794718
Likely pathogenic
Health Risk
RS2147812232
Likely pathogenic
Abnormal cerebral morphology, Abnormal cerebral morphology
Health Risk
RS2521607268
Likely pathogenic
Trichothiodystrophy 5, nonphotosensitive, Trichothiodystrophy 5
Health Risk
RS794726863
Likely pathogenic
Trichothiodystrophy 5, nonphotosensitive, Trichothiodystrophy 5
Health Risk
RS2056406264
Pathogenic
Trichothiodystrophy 5, nonphotosensitive, Trichothiodystrophy 5
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199822951 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2147812233 | Health Risk | Conflicting classifications of pathogenicity | Trichothiodystrophy 5, nonphotosensitive, Trichothiodystrophy 5 |
| RS1064794718 | Health Risk | Likely pathogenic | — |
| RS2147812232 | Health Risk | Likely pathogenic | Abnormal cerebral morphology, Abnormal cerebral morphology |
| RS2521607268 | Health Risk | Likely pathogenic | Trichothiodystrophy 5, nonphotosensitive, Trichothiodystrophy 5 |
| RS794726863 | Health Risk | Likely pathogenic | Trichothiodystrophy 5, nonphotosensitive, Trichothiodystrophy 5 |
| RS2056406264 | Health Risk | Pathogenic | Trichothiodystrophy 5, nonphotosensitive, Trichothiodystrophy 5 |