ZNF711 Chromosome X
Zinc finger protein 711
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What This Gene Does
This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with cognitive disability. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|ZFX transcription factor family"
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000147180
Associated Conditions (3)
Inborn genetic diseases
Intellectual disability
X-linked 97
Key Variants
RS149845917
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS746649683
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 97, Intellectual disability
Health Risk
RS780164828
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS995774322
Conflicting classifications of pathogenicity
Health Risk
RS1060505033
Likely pathogenic
Intellectual disability, X-linked 97, Intellectual disability
Health Risk
RS1264060719
Likely pathogenic
Intellectual disability, X-linked 97, Intellectual disability
Health Risk
RS1555974716
Likely pathogenic
Intellectual disability, X-linked 97, Intellectual disability
Health Risk
RS2520404165
Likely pathogenic
Health Risk
RS2520435923
Likely pathogenic
Intellectual disability, X-linked 97, Intellectual disability
Health Risk
RS1060505032
Pathogenic
Intellectual disability, X-linked 97, Intellectual disability
Health Risk
RS1603009115
Pathogenic
Intellectual disability, X-linked 97, Intellectual disability
Health Risk
RS1931281945
Pathogenic
Intellectual disability, X-linked 97, Intellectual disability
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149845917 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746649683 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 97, Intellectual disability |
| RS780164828 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS995774322 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1060505033 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 97, Intellectual disability |
| RS1264060719 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 97, Intellectual disability |
| RS1555974716 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 97, Intellectual disability |
| RS2520404165 | Health Risk | Likely pathogenic | — |
| RS2520435923 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 97, Intellectual disability |
| RS1060505032 | Health Risk | Pathogenic | Intellectual disability, X-linked 97, Intellectual disability |
| RS1603009115 | Health Risk | Pathogenic | Intellectual disability, X-linked 97, Intellectual disability |
| RS1931281945 | Health Risk | Pathogenic | Intellectual disability, X-linked 97, Intellectual disability |
| RS199422240 | Health Risk | Pathogenic | Intellectual disability, X-linked 97, Intellectual disability |
| RS1555970404 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 97, Intellectual disability |