Variant: rs1483605155 

    present in Gene: RET
    present in Chromosome: 10
    Position on Chromosome: 43113579
    Alleles of this Variant: G/A;C

rs1483605155 in RET gene and HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 PMID 8114939 1994 Mutations of the RET proto-oncogene in Hirschsprung's disease.

PMID 9094028 1997 Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease.

PMID 10618407 2000 A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

PMID 8114938 1994 Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.

PMID 7704557 1994 Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.

PMID 9043870 1996 Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease.

PMID 10090908 1999 Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

PMID 22174939 2011 RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

PMID 7581377 1995 Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

PMID 10484767 1999 Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

PMID 7633441 1995 Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

PMID 7881414 1994 Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

PMID 9259198 1997 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.

PMID 9090527 1997 Frequency of RET mutations in long- and short-segment Hirschsprung disease.

PMID 9384613 1998 Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.