rs201846997

This variant is located in the TFAM gene.

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ClinVar annotation

Conflicting Classifications
4 submitters2 publications

not provided; Mitochondrial DNA depletion syndrome 15 (hepatocerebral type); TFAM-related disorder; Clear cell carcinoma of kidney

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About TFAM

This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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