Variant: rs1198241866 

    present in Gene: ERCC6;PGBD3
    present in Chromosome: 10
    Position on Chromosome: 49524421
    Alleles of this Variant: T/A

rs1198241866 in ERCC6;PGBD3 gene and Cerebrooculofacioskeletal Syndrome 1 PMID 11809892 2002 Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

rs1198241866 in ERCC6;PGBD3 gene and Cockayne Syndrome, Type II PMID 11809892 2002 Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

rs1198241866 in ERCC6;PGBD3 gene and De Sanctis-Cacchione syndrome PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 11809892 2002 Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.