CHD3 Chromosome 17
Chromodomain helicase DNA binding protein 3
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What This Gene Does
This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
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
17p13.1
Ensembl
ENSG00000170004
Associated Conditions (13)
Inborn genetic diseases
Snijders Blok-Campeau syndrome
CHD3-related disorder
Intellectual disability
Malignant tumor of esophagus
Lung cancer
Autism spectrum disorder
Congenital ocular coloboma
Neurodevelopmental abnormality
Melanoma
Global developmental delay
Cervical cancer
Marfanoid habitus and intellectual disability
Key Variants
RS1162732075
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1248531611
Conflicting classifications of pathogenicity
Inborn genetic diseases, Snijders Blok-Campeau syndrome, Inborn genetic diseases
Health Risk
RS1350258866
Conflicting classifications of pathogenicity
Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
Health Risk
RS1394994913
Conflicting classifications of pathogenicity
Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
Health Risk
RS140448992
Conflicting classifications of pathogenicity
CHD3-related disorder, Snijders Blok-Campeau syndrome, Inborn genetic diseases
Health Risk
RS147796138
Conflicting classifications of pathogenicity
Inborn genetic diseases, CHD3-related disorder, Snijders Blok-Campeau syndrome
Health Risk
RS1555611692
Conflicting classifications of pathogenicity
Snijders Blok-Campeau syndrome, Inborn genetic diseases, Snijders Blok-Campeau syndrome
Health Risk
RS1567861571
Conflicting classifications of pathogenicity
Intellectual disability, Snijders Blok-Campeau syndrome, Intellectual disability
Health Risk
RS1970877175
Conflicting classifications of pathogenicity
Snijders Blok-Campeau syndrome, CHD3-related disorder, Snijders Blok-Campeau syndrome
Health Risk
RS200434912
Conflicting classifications of pathogenicity
Snijders Blok-Campeau syndrome, CHD3-related disorder, Malignant tumor of esophagus
Health Risk
RS2151569587
Conflicting classifications of pathogenicity
Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
Health Risk
RS2151603656
Conflicting classifications of pathogenicity
Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
Health Risk
All Variants (101)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS867862540 | Health Risk | Pathogenic/Likely pathogenic | Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome |