rs79781594

plus

Geno	Mag	Summary
(A;G)	5.1	Multiple Endocrine Neoplasia IIA
(C;G)	5.1	Multiple Endocrine Neoplasia IIA
(G;G)	0	common in clinvar
(G;T)	5.1	Multiple Endocrine Neoplasia IIA

Reference

GRCh38 38.1/141

Chromosome

10

Position

43113649

Gene

5.1

ClinVar
Risk	rs79781594(A;A) rs79781594(C;C) rs79781594(T;T)
Alt	rs79781594(A;A) rs79781594(C;C) rs79781594(T;T)
Reference	Rs79781594(G;G)
Significance	Pathogenic
Disease	MEN2A and FMTC Hereditary cancer-predisposing syndrome Medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Familial medullary thyroid carcinoma not provided
Variation	info
Gene	RET
CLNDBN	MEN2A and FMTC Hereditary cancer-predisposing syndrome Medullary thyroid carcinoma Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 4 Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma not provided
Reversed	0
HGVS	NC_000010.10:g.43609097G>A; NC_000010.10:g.43609097G>C; NC_000010.10:g.43609097G>T
CLNSRC	UniProtKB (protein) HGMD OMIM Allelic Variant
CLNACC	RCV000021794.1, RCV000163667.1, RCV000423173.1, RCV000424049.1, RCV000429944.1, RCV000434317.1, RCV000440162.1, RCV000475953.1, RCV000014933.25, RCV000014934.25, RCV000021791.1, RCV000082050.5, RCV000161938.2, RCV000021795.1, RCV000255102.1,

[PMID 8103403] Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

[PMID 7916559 ] Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A.