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SEH1L

Synonyms
SEC13L, SEH1A, SEH1B, Seh1
External resources
Summary
The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms 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
5,767
Likely benign
2,297
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SEH1L gene.

Phenotype class
Patients in 3billion (%)

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