ZNF462 Chromosome 9
Zinc finger protein 462
Upload your DNA to see your personal genotypes for variants in ZNF462.
What This Gene Does
The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
9q31.2
Ensembl
ENSG00000148143
Associated Conditions (7)
ZNF462-related disorder
Inborn genetic diseases
Premature ovarian failure
Weiss-Kruszka syndrome
Intellectual disability
autosomal dominant
Craniosynostosis syndrome
Key Variants
RS370669253
Conflicting classifications of pathogenicity
ZNF462-related disorder, Inborn genetic diseases, ZNF462-related disorder
Health Risk
RS747990150
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754428110
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS759803984
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778521296
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS780560264
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1469441260
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS1564106503
Likely pathogenic
Health Risk
RS1588136019
Likely pathogenic
Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
Health Risk
RS1826656424
Likely pathogenic
Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
Health Risk
RS2131454461
Likely pathogenic
Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
Health Risk
RS2132039347
Likely pathogenic
Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2538778615 | Health Risk | Pathogenic | Weiss-Kruszka syndrome, Weiss-Kruszka syndrome |
| RS2538787233 | Health Risk | Pathogenic | Weiss-Kruszka syndrome, Weiss-Kruszka syndrome |
| RS2538801722 | Health Risk | Pathogenic | — |
| RS2538803152 | Health Risk | Pathogenic | Weiss-Kruszka syndrome, Weiss-Kruszka syndrome |
| RS2538810845 | Health Risk | Pathogenic | Weiss-Kruszka syndrome, Weiss-Kruszka syndrome |
| RS562767308 | Health Risk | Pathogenic | — |
| RS866842287 | Health Risk | Pathogenic | Weiss-Kruszka syndrome, ZNF462-related disorder, Weiss-Kruszka syndrome |
| RS2538791482 | Health Risk | Pathogenic/Likely pathogenic | Weiss-Kruszka syndrome, Weiss-Kruszka syndrome |
| RS753422696 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Weiss-Kruszka syndrome, Inborn genetic diseases |