Phenotype: Hirschsprung disease, susceptibility to, 1


OMIM: 142623
Inheritance: Autosomal dominant
Classification: Congenital malformations, deformations and chromosomal abnormalities

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RET || c.1852T>C

Gene/Locus:    RET
Dna Change:    c.1852T>C
Protein Change:    p.Cys618Arg
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon10
Transcript:    NM_020630.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJewsNANANAPeretz 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