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MTFR1

Synonyms
CHPPR, FAM54A2
External resources
Summary
This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X.

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
11,019
Likely benign
289
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on MTFR1 gene.

Phenotype class
Patients in 3billion (%)

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