| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;G)
|
5.1
|
Multiple Endocrine Neoplasia IIA
|
| ClinVar
|
| Risk
|
rs77709286(G;G) |
| Alt
|
rs77709286(G;G) |
| Reference
|
Rs77709286(C;C) |
| Significance |
Other |
| Disease |
Multiple endocrine neoplasia Pheochromocytoma MEN2A and FMTC not provided Multiple endocrine neoplasia Multiple endocrine neoplasia Neoplasm of the thyroid gland Medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia |
| Variation | info |
|---|
| Gene |
RET |
| CLNDBN |
Multiple endocrine neoplasia, type 2a Pheochromocytoma MEN2A and FMTC not provided Multiple endocrine neoplasia, type 4 Multiple endocrine neoplasia, type 2b Neoplasm of the thyroid gland Medullary thyroid carcinoma Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia, type 2 |
| Reversed |
0 |
| HGVS |
NC_000010.10:g.43609950C>G |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000014939.22, RCV000014940.25, RCV000021827.1, RCV000405235.1, RCV000417418.1, RCV000424817.1, RCV000432112.1, RCV000442512.1, RCV000444799.1, RCV000459040.1, |
[PMID 7907913] Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
[PMID 12000816] Germ-line mutations in nonsyndromic pheochromocytoma.
