PHF20 Chromosome 20

PHD finger protein 20
2 variants 2 Health Risk

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What This Gene Does
Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol; nuclear membrane; and nucleoplasm. Part of MLL1 complex and NSL complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PHD finger proteins|Tudor domain containing|NSL histone acetyltransferase complex"
Locus Type
gene with protein product
Location
20q11.22-q11.23
Ensembl
ENSG00000025293
Associated Conditions (1)
Short stature
Key Variants
RS1456887132
Likely pathogenic
Short stature, Short stature
Health Risk
RS771829423
Likely pathogenic
Short stature, Short stature
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS1456887132 Health Risk Likely pathogenic Short stature, Short stature
RS771829423 Health Risk Likely pathogenic Short stature, Short stature
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