Variant: rs1554818540 

    present in Gene: RET
    present in Chromosome: 10
    Position on Chromosome: 43111366
    Alleles of this Variant: -/G

rs1554818540 in RET gene and Muscle hypotonia PMID 9067749 1997 Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.

PMID 7906417 1994 Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 8918855 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

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

PMID 22429913 2012 Multiple endocrine neoplasias type 2B and RET proto-oncogene.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 19469690 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association.

PMID 18063059 2007 Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 20087666 2010 Update multiple endocrine neoplasia type 2.

PMID 17965226 2008 Hirschsprung disease, associated syndromes and genetics: a review.