XPG

Gene name: excision repair cross-complementing rodent repair deficiency, complementation group 5
OMIM ID: 133530
Chromosome location: 13q33.1

Mutations

Disease/Phenotype	Xeroderma pigmentosum, group G
Reference transcript	NM_000123.3
DNA Change	c.2972delT
A.A. Change	p.Leu991ProfsX9
Exon/Intron	exon 15
Mutation Type	deletion
Reference	Nouspikel T, Lalle P, Leadon SA, Cooper PK, Clarkson SG.A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3116-21.

---