OMIM: 231090Inheritance: Autosomal recessive
Classification: Pregnancy, childbirth and the puerperium
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | NLRP7 |
|---|
| Dna Change: | Intragenic 4 kb duplication |
|---|
| Protein Change: | |
|---|
| Mutation Type: | Duplication |
|---|
| Mutation Effect: | Frameshift |
|---|
| Location: | exons 2 through 5 |
|---|
| Transcript: | |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Egypt | NA | NA | NA | NA | Kou YC et al., 2008Kou YC, Shao L, Peng HH, Rosetta R, del Gaudio D, Wagner AF, Al-Hussaini TK, Van den Veyver IB, . A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.. Mol. Hum. Reprod.. 2008; 14(1):33-40 |
References
Kou YC, Shao L, Peng HH, Rosetta R, del Gaudio D, Wagner AF, Al-Hussaini TK, Van den Veyver IB, A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.Mol. Hum. Reprod.. 2008; 14(1):33-40