Variant: rs121434575 

    present in Gene: BIVM-ERCC5;ERCC5
    present in Chromosome: 13
    Position on Chromosome: 102868152
    Alleles of this Variant: T/C

rs121434575 in BIVM-ERCC5;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 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

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

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

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

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

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