Geno
|
Mag
|
Summary
|
(G;G)
|
0
|
common in clinvar
|
ClinVar
|
Risk
|
rs77939446(A;A) rs77939446(C;C) rs77939446(T;T) |
Alt
|
rs77939446(A;A) rs77939446(C;C) rs77939446(T;T) |
Reference
|
Rs77939446(G;G) |
Significance |
Other |
Disease |
MULTIPLE ENDOCRINE NEOPLASIA MEN2A and FMTC not provided Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia MEN2A and Unclassified |
Variation | info |
---|
Gene |
RET |
CLNDBN |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE MEN2A and FMTC not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 4 MEN2A and Unclassified |
Reversed |
0 |
HGVS |
NC_000010.10:g.43609070G>A; NC_000010.10:g.43609070G>C; NC_000010.10:g.43609070G>T |
CLNSRC |
HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000014958.26, RCV000021778.1, RCV000082049.6, RCV000168107.3, RCV000173889.3, RCV000424503.1, RCV000431942.1, RCV000441078.1, RCV000444552.1, RCV000021779.1, RCV000021780.1, |
[PMID 11524247] Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary.
[PMID 9068588] Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma.