rs75076352
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.
|
9111993 |
1997 |
rs75076352
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Family 2 showed the C634R mutation only in the index case, who presented with cutaneous lichen amyloidosis in addition to MTC, pheochromocytoma and hyperparathyroidism.
|
11987030 |
2002 |
rs75996173
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Among the MEN 2A individuals there was one case with de novo C634R mutation and one case, C634Y, with cutaneous lichen amyloidosis which predated by 24 years the diagnosis of MEN 2A.
|
9820617 |
1998 |
rs75996173
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis.
|
7914213 |
1994 |
rs1206969193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We noticed that three OSMR p.G513D carriers presenting with CA also had the RET p.S891A mutation.
|
26356818 |
2015 |
rs1421685618
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We noticed that three OSMR p.G513D carriers presenting with CA also had the RET p.S891A mutation.
|
26356818 |
2015 |
rs202145435
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We noticed that three OSMR p.G513D carriers presenting with CA also had the RET p.S891A mutation.
|
26356818 |
2015 |
rs377767397
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis.
|
30049837 |
2018 |
rs377767398
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis.
|
30049837 |
2018 |
rs387906571
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis.
|
10198255 |
1999 |
rs75234356
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We noticed that three OSMR p.G513D carriers presenting with CA also had the RET p.S891A mutation.
|
26356818 |
2015 |
rs958191819
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This TTR mutation (Tyr78Phe) is associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis.
|
12762139 |
2003 |