Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767404
rs377767404
RET
0.730 GeneticVariation BEFREE The combined presence of C630R and C634W represent a novel somatic mutation in sporadic MTC. 28952196

2017

dbSNP: rs377767404
rs377767404
RET
0.730 GeneticVariation BEFREE Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed. 16053382

2005

dbSNP: rs377767404
rs377767404
RET
0.730 GeneticVariation BEFREE Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation. 15523405

2004

dbSNP: rs377767404
rs377767404
RET
C 0.730 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999