ZNF674 Chromosome X
Zinc finger protein 674
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What This Gene Does
This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disabilities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Zinc fingers C2H2-type|KRAB domain containing"
Locus Type
gene with protein product
Location
Xp11.3
Ensembl
ENSG00000251192
Associated Conditions (2)
ZNF674-related disorder
History of neurodevelopmental disorder
Key Variants
RS182004761
Conflicting classifications of pathogenicity
ZNF674-related disorder, ZNF674-related disorder
Health Risk
RS201621696
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, ZNF674-related disorder, History of neurodevelopmental disorder
Health Risk
RS778073001
Conflicting classifications of pathogenicity
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS182004761 | Health Risk | Conflicting classifications of pathogenicity | ZNF674-related disorder, ZNF674-related disorder |
| RS201621696 | Health Risk | Conflicting classifications of pathogenicity | History of neurodevelopmental disorder, ZNF674-related disorder, History of neurodevelopmental disorder |
| RS778073001 | Health Risk | Conflicting classifications of pathogenicity | — |