rs74854677

This variant is located in the C19orf12 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Neurodegeneration with brain iron accumulation 4; not provided

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About C19orf12

This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all C19orf12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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