Hydatidiform mole
OMIM:231090Mode of inheritance:Autosomal recessive
Disease classification:Pregnancy, childbirth and the puerperium
Mutations
| Gene Symbol | NLRP7 |
|---|---|
| Reference transcript | NM_139176.3 |
| DNA Change | c.2077C>T |
| A.A. Change | p,Arg693Trp |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Puechberty J, Rittore C, Philibert L, Lefort G, Burlet G, Benos P, Reyftmann L, Sarda P, Touitou I.Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure. Clin Genet. 2009 Mar;75(3):298-300. |