|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
T |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.
|
8099202 |
1993 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
|
8103403 |
1993 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
We have identified a mutation in codon 620, 2053 T-->C (Cys620Arg), and two mutations in codon 634 of exon 11 of RET, 2095 T-->C (Cys634Arg) and 2096 G-->A (Cys634Tyr), all three of which were present in both MEN2A and FMTC families.
|
7835899 |
1994 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
A cys634-->tyr missense mutation, already reported as causative in MEN2A patients, was identified after SSCP analysis and direct sequencing of exon 11 of the RET protooncogene in one individual affected with both MEN2A and CLA, thus suggesting a common etiology for the two disorders.
|
7914213 |
1994 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
|
7915165 |
1994 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
|
7881414 |
1994 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
|
7824936 |
1995 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A).
|
7860065 |
1995 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A).
|
7860065 |
1995 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.
|
8807338 |
1996 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group.
|
8626834 |
1996 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
|
8918855 |
1996 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
|
9230192 |
1997 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A.
|
9097963 |
1997 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A.
|
9452064 |
1998 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
|
9384613 |
1998 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.
|
10522989 |
1999 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.
|
9950371 |
1999 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.
|
12746565 |
2003 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.
|
12746565 |
2003 |