|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in 'MEN 2A with CLA', one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.
|
30049837 |
2018 |
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.
|
23723040 |
2013 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A.
|
15858153 |
2005 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome.
|
15592804 |
2005 |
|
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
|
BEFREE |
The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric patients in the south of Spain is the C635Y.
|
24643705 |
2014 |
|
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
|
BEFREE |
Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in ‘MEN 2A with CLA’, one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.
|
30300539 |
2018 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in <i>RET</i> exon 11.
|
28943896 |
2017 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our results suggest that there could be clinical differences caused by different amino acid substitutions at codon 634; specifically, the C634R mutation was associated with a more aggressive MEN2A phenotype than the C634Y mutation.
|
25515555 |
2015 |
|
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
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
|
25810047 |
2015 |
|
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 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A.
|
26732158 |
2017 |
|
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
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
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
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
T |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Multiple endocrine neoplasia type 2A in a kindred with C634Y mutation.
|
16099853 |
2005 |
|
rs75996173
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
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 |
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.
|
8099202 |
1993 |