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


Gene name: regulatory factor X-associated ankyrin-containing protein
OMIM ID: 603200
Chromosome location: 19p13.11


Disease/PhenotypeMajor histocompatibility complex class II deficiency
Reference transcriptNM_003721.2
DNA Changec.338-25_338del26
A.A. Change
Exon/Intronexon 6
Mutation Typedeletion
ReferenceNaamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, Hassar M, Saile R, Bousfiha AA.The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.
Eur J Pediatr. 2010 Sep;169(9):1069-74.