Gene Symbol: RET
OMIM: 164761Chromosome location: 10q11.21
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Multiple endocrine neoplasia IIA |
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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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| Cyprus | NA | NA | 7 patients/7 families | NA | Neocleous V et al., 2011Neocleous V, Skordis N, Portides G, Efstathiou E, Costi C, Ioannou N, Pantzaris M, Anastasiadou V, Deltas C, Phylactou LA, . RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.. J. Endocrinol. Invest.. 2011; 34(10):764-9 |
| Cyprus | NA | NA | 1 patient/1 family | NA | Neocleous V et al., 2011Neocleous V, Skordis N, Portides G, Efstathiou E, Costi C, Ioannou N, Pantzaris M, Anastasiadou V, Deltas C, Phylactou LA, . RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.. J. Endocrinol. Invest.. 2011; 34(10):764-9 |
| 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 |
| 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
Neocleous V, Skordis N, Portides G, Efstathiou E, Costi C, Ioannou N, Pantzaris M, Anastasiadou V, Deltas C, Phylactou LA, RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.J. Endocrinol. Invest.. 2011; 34(10):764-9
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