DPY19L2
Gene name: dpy-19-like 2 (C. elegans)OMIM ID: 613893
Chromosome location: 12q14.2
Mutations
| Disease/Phenotype | Spermatogenic failure 9 |
|---|---|
| DNA Change | 200 kb deletion  |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| Reference | Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, Triki C, Sermondade N, Schweitzer T, Zhioua A, Zhioua F, Latrous H, Halouani L, Ouafi M, Makni M, Jouk PS, S?le B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF.A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011 Mar 11;88(3):351-61. |
Variant not named according to HGVS recommendations