Home > Gene Browser > SMDT1

SMDT1

Synonyms
C22orf32, DDDD, EMRE
External resources
Summary
This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane.

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
274
Likely benign
2
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SMDT1 gene.

Phenotype class
Patients in 3billion (%)

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