Variant: rs121434571 

    present in Gene: ERCC5;BIVM-ERCC5
    present in Chromosome: 13
    Position on Chromosome: 102866687
    Alleles of this Variant: C/A;T

rs121434571 in ERCC5;BIVM-ERCC5 gene and Xeroderma pigmentosum, group G PMID 11228268 2001 Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

PMID 11841555 2002 The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.

PMID 12060391 2002 Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PMID 23255472 2013 Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

PMID 7951246 1994 Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

PMID 9096355 1997 A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.