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GUCA1B

Synonyms
GCAP 2, GCAP2, GUCA2, RP48
External resources
Summary
The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa.

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
474
Likely benign
1,228
Benign
1,092

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GUCA1B gene.

Phenotype class
Patients in 3billion (%)

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