Gene Symbol: NLRP7
OMIM: 609661Chromosome location: 19q13.42
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Hydatidiform mole |
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| Dna Change: | Intragenic 4 kb duplication |
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| Protein Change: | |
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| Mutation Type: | Duplication |
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| Mutation Effect: | Frameshift |
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| Location: | exons 2 through 5 |
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| Transcript: | |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| 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