RFXAP
Gene name: regulatory factor X-associated proteinOMIM ID: 601861
Chromosome location: 13q13.3
Mutations
| Disease/Phenotype | Major histocompatibility complex class II deficiency |
|---|---|
| Reference transcript | NM_000538.3 |
| DNA Change | c.484delG |
| A.A. Change | p.S123fsX137 |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Villard J, Lisowska-Grospierre B, van den Elsen P, Fischer A, Reith W, Mach B.Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. N Engl J Med. 1997 Sep 11;337(11):748-53. |