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BLOC1S4

Synonyms
BCAS4L, BLOS4, CNO
External resources
Summary
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking.

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
575
Likely benign
171
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BLOC1S4 gene.

Phenotype class
Patients in 3billion (%)

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