OMIM: 219050Inheritance: Multiple
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | RXFP2 |
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| Dna Change: | c.664A>C |
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| Protein Change: | p.Thr222Pro |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 8 |
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| Transcript: | NM_130806.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 1.8% (7 patients/ 390 patients) | NA | Ars E et al., 2011Ars E, Lo Giacco D, Bassas L, Nuti F, Rajmil O, Ruíz P, Garat JM, Ruiz-Castané E, Krausz C, . Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations.. Int. J. Androl.. 2011; 34(4):333-8 |
| Spain | NA | NA | 1.6% (3 patients/187 patients) | NA | Ars E et al., 2011Ars E, Lo Giacco D, Bassas L, Nuti F, Rajmil O, Ruíz P, Garat JM, Ruiz-Castané E, Krausz C, . Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations.. Int. J. Androl.. 2011; 34(4):333-8 |
References
Ars E, Lo Giacco D, Bassas L, Nuti F, Rajmil O, Ruíz P, Garat JM, Ruiz-Castané E, Krausz C, Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations.Int. J. Androl.. 2011; 34(4):333-8