Home > Gene Browser > SLC25A47

SLC25A47

Synonyms
C14orf68, HDCMP, HDMCP, HMFN1655
External resources
Summary
This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants.

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
7,159
Likely benign
658
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC25A47 gene.

Phenotype class
Patients in 3billion (%)

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