Variant: rs121917905

present in Gene: ERCC6 present in Chromosome: 10 Position on Chromosome: 49471085 Alleles of this Variant: A/C;G

rs121917905 in ERCC6 gene and Cerebrooculofacioskeletal Syndrome 1 PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.