AMH
Gene name: anti-Mullerian hormoneOMIM ID: 600957
Chromosome location: 19p13.3
Mutations
| Disease/Phenotype | Persistent Mullerian duct syndrome, type I |
|---|---|
| DNA Change | 2096G>T |
| A.A. Change | Glu358Stop |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Knebelmann B, Boussin L, Guerrier D, Legeai L, Kahn A, Josso N, Picard JY.Anti-Mullerian hormone Bruxelles: a nonsense mutation associated with the persistent M?llerian duct syndrome. Proc Natl Acad Sci U S A. 1991 May 1;88(9):3767-71. |
Variant not named according to HGVS recommendations