CHD1 Chromosome 5
Chromodomain helicase DNA binding protein 1
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What This Gene Does
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SNF2 related family
Locus Type
gene with protein product
Location
5q15-q21.1
Ensembl
ENSG00000153922
Associated Conditions (1)
Pilarowski-Bjornsson syndrome
Key Variants
RS1749202438
Conflicting classifications of pathogenicity
Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
Health Risk
RS199740650
Conflicting classifications of pathogenicity
Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
Health Risk
RS372549408
Conflicting classifications of pathogenicity
Health Risk
RS72775611
Conflicting classifications of pathogenicity
Health Risk
RS749154860
Conflicting classifications of pathogenicity
Health Risk
RS760755215
Conflicting classifications of pathogenicity
Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
Health Risk
RS761944491
Conflicting classifications of pathogenicity
Health Risk
RS767095541
Conflicting classifications of pathogenicity
Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
Health Risk
RS1344698815
Likely pathogenic
Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
Health Risk
RS2479520814
Likely pathogenic
Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
Health Risk
RS2479646862
Likely pathogenic
Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
Health Risk
RS2479716393
Likely pathogenic
Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1749202438 | Health Risk | Conflicting classifications of pathogenicity | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS199740650 | Health Risk | Conflicting classifications of pathogenicity | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS372549408 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS72775611 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749154860 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760755215 | Health Risk | Conflicting classifications of pathogenicity | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS761944491 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767095541 | Health Risk | Conflicting classifications of pathogenicity | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS1344698815 | Health Risk | Likely pathogenic | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS2479520814 | Health Risk | Likely pathogenic | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS2479646862 | Health Risk | Likely pathogenic | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS2479716393 | Health Risk | Likely pathogenic | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS2479719966 | Health Risk | Likely pathogenic | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS1554078349 | Health Risk | Pathogenic | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |
| RS1554078856 | Health Risk | Pathogenic | Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome |