CHD4 Chromosome 12
Chromodomain helicase DNA binding protein 4
Upload your DNA to see your personal genotypes for variants in CHD4.
What This Gene Does
The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"PHD finger proteins|SNF2 related family|NuRD complex subunits|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000111642
Associated Conditions (9)
Inborn genetic diseases
CHD4-related disorder
Sifrim-Hitz-Weiss syndrome
Glioma susceptibility 1
Cleft palate
Moyamoya angiopathy with developmental delay
Ovarian serous cystadenocarcinoma
Neonatal encephalopathy
Uterine corpus endometrial carcinoma
Key Variants
RS1218545996
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1350840992
Conflicting classifications of pathogenicity
CHD4-related disorder, Inborn genetic diseases, CHD4-related disorder
Health Risk
RS1377989582
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138116135
Conflicting classifications of pathogenicity
Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases, Sifrim-Hitz-Weiss syndrome
Health Risk
RS141366600
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1948434432
Conflicting classifications of pathogenicity
Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
Health Risk
RS200017158
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201992075
Conflicting classifications of pathogenicity
Sifrim-Hitz-Weiss syndrome, Glioma susceptibility 1, Sifrim-Hitz-Weiss syndrome
Health Risk
RS2540395935
Conflicting classifications of pathogenicity
Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
Health Risk
RS2540396625
Conflicting classifications of pathogenicity
Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
Health Risk
RS2540412258
Conflicting classifications of pathogenicity
Health Risk
RS370071477
Conflicting classifications of pathogenicity
CHD4-related disorder, Inborn genetic diseases, CHD4-related disorder
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2540395856 | Health Risk | Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS2540395930 | Health Risk | Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS2540396222 | Health Risk | Likely pathogenic | CHD4-related disorder, CHD4-related disorder |
| RS2540397438 | Health Risk | Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS2540397477 | Health Risk | Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS2540401004 | Health Risk | Likely pathogenic | Neonatal encephalopathy, Neonatal encephalopathy |
| RS2540403868 | Health Risk | Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS2540411694 | Health Risk | Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS2540412378 | Health Risk | Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS751534948 | Health Risk | Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS1064795878 | Health Risk | Pathogenic | — |
| RS1948418309 | Health Risk | Pathogenic | — |
| RS2136209729 | Health Risk | Pathogenic | — |
| RS2540383441 | Health Risk | Pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS2540395943 | Health Risk | Pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS886039915 | Health Risk | Pathogenic | Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases, Sifrim-Hitz-Weiss syndrome |
| RS886039916 | Health Risk | Pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS886039917 | Health Risk | Pathogenic | Sifrim-Hitz-Weiss syndrome, Uterine corpus endometrial carcinoma, Sifrim-Hitz-Weiss syndrome |
| RS886039919 | Health Risk | Pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS1948326461 | Health Risk | Pathogenic/Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS1948327010 | Health Risk | Pathogenic/Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS2136209158 | Health Risk | Pathogenic/Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases, Sifrim-Hitz-Weiss syndrome |
| RS2136209181 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2136209186 | Health Risk | Pathogenic/Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS2136213384 | Health Risk | Pathogenic/Likely pathogenic | CHD4-related disorder, CHD4-related disorder |
| RS886039918 | Health Risk | Pathogenic/Likely pathogenic | Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases, Sifrim-Hitz-Weiss syndrome |