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TRPC1

Synonyms
HTRP-1, TRP1
External resources
Summary
The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene.

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
3,481
Likely benign
1,240
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TRPC1 gene.

Phenotype class
Patients in 3billion (%)

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