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HVCN1

Synonyms
HV1, VSOP
External resources
Summary
This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple 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
965
Likely benign
762
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on HVCN1 gene.

Phenotype class
Patients in 3billion (%)

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