Geno
|
Mag
|
Summary
|
(T;T)
|
0
|
common in clinvar
|
ClinVar
|
Risk
|
rs75234356(G;G) |
Alt
|
rs75234356(G;G) |
Reference
|
Rs75234356(T;T) |
Significance |
Other |
Disease |
Multiple endocrine neoplasia Familial medullary thyroid carcinoma MEN2A and FMTC Multiple endocrine neoplasia IIA Multiple endocrine neoplasia not provided Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Medullary thyroid carcinoma |
Variation | info |
---|
Gene |
RET |
CLNDBN |
Multiple endocrine neoplasia, type 2a Familial medullary thyroid carcinoma MEN2A and FMTC Multiple endocrine neoplasia IIA Multiple endocrine neoplasia, type 2 not provided Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 4 Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma |
Reversed |
0 |
HGVS |
NC_000010.10:g.43615592T>G |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000014978.26, RCV000014979.26, RCV000021875.1, RCV000193761.1, RCV000227193.2, RCV000394478.1, RCV000425892.1, RCV000431535.1, RCV000441854.1, RCV000445273.1, |
[PMID 10024437] A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy.