NLRP7

Gene name: NLR family, pyrin domain containing 7
OMIM ID: 609661
Chromosome location: 19q13.42

Mutations

Disease/Phenotype	Hydatidiform mole
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.

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