| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in clinvar
|
| ClinVar
|
| Risk
|
rs77724903(T;T) |
| Alt
|
rs77724903(T;T) |
| Reference
|
Rs77724903(A;A) |
| Significance |
Other |
| Disease |
Familial medullary thyroid carcinoma Pheochromocytoma MEN2A and FMTC not provided Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Hirschsprung disease not specified Hirschsprung Disease Multiple endocrine neoplasia Renal adysplasia Medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia |
| Variation | info |
|---|
| Gene |
RET |
| CLNDBN |
Familial medullary thyroid carcinoma Pheochromocytoma MEN2A and FMTC not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease not specified Hirschsprung Disease, Dominant Multiple endocrine neoplasia Renal adysplasia Medullary thyroid carcinoma Multiple endocrine neoplasia, type 4 Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 1 |
| Reversed |
0 |
| HGVS |
NC_000010.10:g.43613908A>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000014962.26, RCV000014963.28, RCV000021851.1, RCV000034771.5, RCV000123309.6, RCV000130367.3, RCV000148769.1, RCV000235206.4, RCV000312825.1, RCV000370653.1, RCV000400976.1, RCV000419149.1, RCV000426589.1, RCV000431156.1, RCV000436831.1, RCV000441584.1, |
[PMID 12000816] Germ-line mutations in nonsyndromic pheochromocytoma.
[PMID 16118333] Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma?
