Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

XPC

Gene name: xeroderma pigmentosum, complementation group C
OMIM ID: 613208
Chromosome location: 3p25.1

Mutations

Disease/PhenotypeXeroderma pigmentosum, group C
Reference transcriptNM_004628.4
DNA Changec.1643_1644delTG
A.A. Changep.Val548AlafsX25
Exon/Intronexon 9
Mutation Typedeletion
ReferenceDoubaj 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.