OMIM: 142623Inheritance: Autosomal dominant
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | RET |
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| Dna Change: | c.1852T>C |
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| Protein Change: | p.Cys618Arg |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon10 |
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| Transcript: | NM_020630.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Morocco | Jews | NA | NA | NA | Peretz H et al., 1997Peretz H, Luboshitsky R, Baron E, Biton A, Gershoni R, Usher S, Grynberg E, Yakobson E, Graff E, Lapidot M, . Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.. Hum. Mutat.. 1997; 10(2):155-9 |
References
Peretz H, Luboshitsky R, Baron E, Biton A, Gershoni R, Usher S, Grynberg E, Yakobson E, Graff E, Lapidot M, Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.Hum. Mutat.. 1997; 10(2):155-9