CHAMP1 Chromosome 13
Chromosome alignment maintaining phosphoprotein 1
Upload your DNA to see your personal genotypes for variants in CHAMP1.
What This Gene Does
This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000198824
Associated Conditions (8)
Inborn genetic diseases
Complex neurodevelopmental disorder
Intellectual disability
autosomal dominant 40
CHAMP1-related syndrome
Neurodevelopmental disorder
intellectual disability with severe speech impairment
See cases
Key Variants
RS147842405
Conflicting classifications of pathogenicity
Inborn genetic diseases, Complex neurodevelopmental disorder, Inborn genetic diseases
Health Risk
RS367949169
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 40
Health Risk
RS782052857
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782768495
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1594129609
Likely pathogenic
Intellectual disability, autosomal dominant 40, CHAMP1-related syndrome
Health Risk
RS1594131663
Likely pathogenic
CHAMP1-related syndrome, CHAMP1-related syndrome
Health Risk
RS1594131992
Likely pathogenic
Health Risk
RS2139419505
Likely pathogenic
Intellectual disability, autosomal dominant 40, Intellectual disability
Health Risk
RS2139419654
Likely pathogenic
Health Risk
RS2139419874
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2139420368
Likely pathogenic
Health Risk
RS2503196938
Likely pathogenic
Intellectual disability, autosomal dominant 40, Intellectual disability
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147842405 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Complex neurodevelopmental disorder, Inborn genetic diseases |
| RS367949169 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal dominant 40 |
| RS782052857 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782768495 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1594129609 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 40, CHAMP1-related syndrome |
| RS1594131663 | Health Risk | Likely pathogenic | CHAMP1-related syndrome, CHAMP1-related syndrome |
| RS1594131992 | Health Risk | Likely pathogenic | — |
| RS2139419505 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2139419654 | Health Risk | Likely pathogenic | — |
| RS2139419874 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2139420368 | Health Risk | Likely pathogenic | — |
| RS2503196938 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2503198180 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2503201849 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2503203938 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2503204393 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2503204562 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS863225073 | Health Risk | Likely pathogenic | — |
| RS1131691845 | Health Risk | Pathogenic | — |
| RS1555379525 | Health Risk | Pathogenic | CHAMP1-related syndrome, CHAMP1-related syndrome |
| RS1555379911 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1594130666 | Health Risk | Pathogenic | — |
| RS1594132583 | Health Risk | Pathogenic | — |
| RS200070245 | Health Risk | Pathogenic | intellectual disability with severe speech impairment, Intellectual disability, autosomal dominant 40 |
| RS2087215071 | Health Risk | Pathogenic | — |
| RS2087230045 | Health Risk | Pathogenic | — |
| RS2087233948 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual disability, Inborn genetic diseases |
| RS2087240702 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2087243806 | Health Risk | Pathogenic | — |
| RS2139418772 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2139419099 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2139419839 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2139420056 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2139421634 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2139421763 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2139422092 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2139422391 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2503203454 | Health Risk | Pathogenic | — |
| RS2503203991 | Health Risk | Pathogenic | See cases, See cases |
| RS2503204380 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS2503204756 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, Intellectual disability |
| RS782465797 | Health Risk | Pathogenic | CHAMP1-related syndrome, CHAMP1-related syndrome |
| RS797044961 | Health Risk | Pathogenic | intellectual disability with severe speech impairment, Intellectual disability, autosomal dominant 40 |
| RS797044962 | Health Risk | Pathogenic | intellectual disability with severe speech impairment, Intellectual disability, autosomal dominant 40 |
| RS797044963 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 40, intellectual disability with severe speech impairment |
| RS863225074 | Health Risk | Pathogenic | CHAMP1-related syndrome, CHAMP1-related syndrome |
| RS863225075 | Health Risk | Pathogenic | CHAMP1-related syndrome, CHAMP1-related syndrome |
| RS863225076 | Health Risk | Pathogenic | — |
| RS863225077 | Health Risk | Pathogenic | CHAMP1-related syndrome, Intellectual disability, autosomal dominant 40 |
| RS863225078 | Health Risk | Pathogenic | — |