Home > Gene Browser > CALHM1

CALHM1

Synonyms
FAM26C
External resources
Summary
This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
12,961
Likely benign
1,456
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CALHM1 gene.

Phenotype class
Patients in 3billion (%)

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