| Geno
|
Mag
|
Summary
|
| (G;G)
|
0
|
common in clinvar
|
| ClinVar
|
| Risk
|
rs75996173(A;A) rs75996173(C;C) rs75996173(T;T) |
| Alt
|
rs75996173(A;A) rs75996173(C;C) rs75996173(T;T) |
| Reference
|
Rs75996173(G;G) |
| Significance |
Other |
| Disease |
Multiple endocrine neoplasia Pheochromocytoma MEN2A and FMTC Hereditary cancer-predisposing syndrome not provided Neoplasm Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Medullary thyroid carcinoma Multiple endocrine neoplasia Familial medullary thyroid carcinoma |
| Variation | info |
|---|
| Gene |
RET |
| CLNDBN |
Multiple endocrine neoplasia, type 2a Pheochromocytoma MEN2A and FMTC Hereditary cancer-predisposing syndrome not provided Neoplasm Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 4 Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma |
| Reversed |
0 |
| HGVS |
NC_000010.10:g.43609949G>A; NC_000010.10:g.43609949G>C; NC_000010.10:g.43609949G>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000014924.22, RCV000014925.25, RCV000021823.1, RCV000129490.3, RCV000182582.2, RCV000421191.1, RCV000422622.1, RCV000425364.1, RCV000432822.1, RCV000438527.1, RCV000476408.1, RCV000014926.25, RCV000014927.25, RCV000021824.1, RCV000014928.21, RCV000014929.21, RCV000014930.21, RCV000021825.1, RCV000471652.1, |
[PMID 3078962] Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.
[PMID 7824936] Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
[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.
