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SLU7

Synonyms
9G8, hSlu7
External resources
Summary
Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions.

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
12,837
Likely benign
687
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLU7 gene.

Phenotype class
Patients in 3billion (%)

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