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SNRPB

Synonyms
CCMS, COD, SNRPB1, Sm-B/B', SmB/B', SmB/SmB', snRNP-B
External resources
Summary
The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') 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
974
Likely benign
715
Benign
3,463

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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