ZC3H14 Chromosome 14
Zinc finger CCCH-type containing 14
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What This Gene Does
The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]
Gene Info
Gene Group
Zinc fingers CCCH-type
Locus Type
gene with protein product
Location
14q31.3
Ensembl
ENSG00000100722
Associated Conditions (2)
Intellectual disability
autosomal recessive 56
Key Variants
RS143129413
Conflicting classifications of pathogenicity
Health Risk
RS145521296
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 56, Intellectual disability
Health Risk
RS149865117
Conflicting classifications of pathogenicity
Health Risk
RS571303442
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 56, Intellectual disability
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143129413 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145521296 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 56, Intellectual disability |
| RS149865117 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571303442 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 56, Intellectual disability |