OMIM: 155240Inheritance: Autosomal dominant
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | RET |
|---|
| Dna Change: | c.1852T>C |
|---|
| Protein Change: | p.Cys618Arg |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon10 |
|---|
| Transcript: | NM_020630.4 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| 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 |
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