Variant: rs1554793270 

    present in Gene: PGBD3;ERCC6
    present in Chromosome: 10
    Position on Chromosome: 49524295
    Alleles of this Variant: C/A

rs1554793270 in PGBD3;ERCC6 gene and Cerebrooculofacioskeletal Syndrome 1 PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

rs1554793270 in PGBD3;ERCC6 gene and Cockayne Syndrome, Type II PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

rs1554793270 in PGBD3;ERCC6 gene and De Sanctis-Cacchione syndrome PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.