rs773592729

This variant is located in the SNRPA gene.

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ClinVar annotation

Likely Benign
1 submitter

SNRPA-related disorder

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About SNRPA

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. [provided by RefSeq, Oct 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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