Xeroderma pigmentosum, group G

OMIM:278780
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	XPG
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.

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