Geno
|
Mag
|
Summary
|
(T;T)
|
0
|
common in clinvar
|
ClinVar
|
Risk
|
rs76262710(A;A) rs76262710(C;C) rs76262710(G;G) |
Alt
|
rs76262710(A;A) rs76262710(C;C) rs76262710(G;G) |
Reference
|
Rs76262710(T;T) |
Significance |
Other |
Disease |
MEN2A and FMTC not provided Familial medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Medullary thyroid carcinoma Multiple endocrine neoplasia MEN2A and Unclassified Multiple endocrine neoplasia |
Variation | info |
---|
Gene |
RET |
CLNDBN |
MEN2A and FMTC not provided Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma Multiple endocrine neoplasia, type 4 MEN2A and Unclassified Multiple endocrine neoplasia, type 2 |
Reversed |
0 |
HGVS |
NC_000010.10:g.43609096T>A; NC_000010.10:g.43609096T>C; NC_000010.10:g.43609096T>G |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000032040.1, RCV000182594.2, RCV000014954.26, RCV000021792.1, RCV000114391.3, RCV000345209.1, RCV000427260.1, RCV000434685.1, RCV000442341.1, RCV000444839.1, RCV000014919.21, RCV000021793.1, RCV000228834.2, |
[PMID 3078962] Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.
[PMID 7907913] Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
[PMID 8103403] Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.