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HPCAL1

Synonyms
BDR1, HLP2, VILIP-3
External resources
Summary
The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein 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
2,054
Likely benign
44
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on HPCAL1 gene.

Phenotype class
Patients in 3billion (%)

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