Variant: rs121434324

present in Gene: ERCC8;NDUFAF2 present in Chromosome: 5 Position on Chromosome: 60944972 Alleles of this Variant: C/A

rs121434324 in ERCC8;NDUFAF2 gene and Cockayne Syndrome, Type I PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.