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SEM1

Synonyms
C7orf76, DSS1, ECD, PSMD15, SHFD1, SHFM1, SHSF1, Shfdg1
External resources
Summary
The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
194
Likely benign
10
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SEM1 gene.

Phenotype class
Patients in 3billion (%)

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