ZFP30 Chromosome 19

ZFP30 zinc finger protein

1 variant 1 Health Risk

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What This Gene Does

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

"Zinc fingers C2H2-type|KRAB domain containing"

Locus Type

gene with protein product

Location

19q13.12

Ensembl

ENSG00000120784

Associated Conditions (1)

Cerebral visual impairment and intellectual disability

Key Variants

RS869312869

Likely pathogenic

Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS869312869	Health Risk	Likely pathogenic	Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability