CSMD1 Chromosome 8
CUB and Sushi multiple domains 1
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What This Gene Does
Predicted to act upstream of or within several processes, including learning or memory; mammary gland branching involved in pregnancy; and reproductive structure development. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Sushi domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
8p23.2
Ensembl
ENSG00000183117
Associated Conditions (2)
Autism spectrum disorder
CSMD1-related disorder
Key Variants
RS1811902928
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS143951764
Conflicting classifications of pathogenicity
Health Risk
RS181980598
Conflicting classifications of pathogenicity
Health Risk
RS199588930
Conflicting classifications of pathogenicity
Health Risk
RS778028015
Likely pathogenic
CSMD1-related disorder, CSMD1-related disorder
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1811902928 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS143951764 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS181980598 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199588930 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778028015 | Health Risk | Likely pathogenic | CSMD1-related disorder, CSMD1-related disorder |