rs397514615

This is a stop gained variant in the MFF gene.

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ClinVar annotation

Pathogenic
2 submitters2 publications

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 (EMPF2); Global developmental delay (DD); Mitochondrial encephalomyopathy

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About MFF

This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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