Geno
|
Mag
|
Summary
|
(G;G)
|
0
|
common in clinvar
|
ClinVar
|
Risk
|
rs75873440(A;A) rs75873440(T;T) |
Alt
|
rs75873440(A;A) rs75873440(T;T) |
Reference
|
Rs75873440(G;G) |
Significance |
Pathogenic |
Disease |
MEN2 phenotype: Unknown Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Familial medullary thyroid carcinoma MEN2A and FMTC not provided |
Variation | info |
---|
Gene |
RET |
CLNDBN |
MEN2 phenotype: Unknown Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma MEN2A and FMTC not provided |
Reversed |
0 |
HGVS |
NC_000010.10:g.43607621G>A; NC_000010.10:g.43607621G>T |
CLNSRC |
OMIM Allelic Variant |
CLNACC |
RCV000021768.1, RCV000409959.1, RCV000411509.1, RCV000465806.1, RCV000014977.22, RCV000021770.1, RCV000182579.3, RCV000469127.1, |
[PMID 14602786] A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma.
[PMID 17009072] Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.