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.