ZNF462 Chromosome 9

Zinc finger protein 462

59 variants 59 Health Risk

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

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

Health Risk

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
RS370669253	Health Risk	Conflicting classifications of pathogenicity	ZNF462-related disorder, Inborn genetic diseases, ZNF462-related disorder
RS747990150	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS754428110	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS759803984	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS778521296	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS780560264	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1469441260	Health Risk	Likely pathogenic	Premature ovarian failure, Premature ovarian failure
RS1564106503	Health Risk	Likely pathogenic	—
RS1588136019	Health Risk	Likely pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1826656424	Health Risk	Likely pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2131454461	Health Risk	Likely pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2132039347	Health Risk	Likely pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538729329	Health Risk	Likely pathogenic	ZNF462-related disorder, ZNF462-related disorder
RS2538759626	Health Risk	Likely pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538791396	Health Risk	Likely pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538809532	Health Risk	Likely pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS762218427	Health Risk	Likely pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS996375589	Health Risk	Likely pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1060499549	Health Risk	Pathogenic	Intellectual disability, autosomal dominant, Craniosynostosis syndrome
RS1060499550	Health Risk	Pathogenic	Intellectual disability, autosomal dominant, Craniosynostosis syndrome
RS1060499551	Health Risk	Pathogenic	Intellectual disability, autosomal dominant, Craniosynostosis syndrome
RS1176008720	Health Risk	Pathogenic	—
RS1379106674	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1418374583	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1490120963	Health Risk	Pathogenic	—
RS1554703226	Health Risk	Pathogenic	—
RS1554703536	Health Risk	Pathogenic	—
RS1588062809	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1588063241	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1588064794	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1588065447	Health Risk	Pathogenic	—
RS1588067098	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1588070867	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1588073071	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1830464621	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1830597071	Health Risk	Pathogenic	ZNF462-related disorder, Weiss-Kruszka syndrome, ZNF462-related disorder
RS1830599035	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2131431481	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2131462794	Health Risk	Pathogenic	—
RS2131465180	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2131473842	Health Risk	Pathogenic	—
RS2131488835	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2131515110	Health Risk	Pathogenic	—
RS2131530745	Health Risk	Pathogenic	—
RS2538720827	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538729222	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538744961	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538751691	Health Risk	Pathogenic	—
RS2538759243	Health Risk	Pathogenic	Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538768319	Health Risk	Pathogenic	—

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