rs200956547
This variant is located in the DNA2 gene.
▶ClinVar annotation
About DNA2
This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
View all DNA2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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