Xeroderma pigmentosum, group C
OMIM:278720Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | XPC |
|---|---|
| Reference transcript | NM_004628.4 |
| DNA Change | c.1643_1644delTG |
| A.A. Change | p.Val548AlafsX25 |
| Exon/Intron | exon 9 |
| Mutation Type | deletion |
| Reference | Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A.Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco. J Dermatol. 2012 Apr;39(4):382-4. |