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SNRPA

Synonyms
Mud1, U1-A, U1A
External resources
Summary
The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation.

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
1,662
Likely benign
3,577
Benign
877

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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