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rs74799832

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74799832(C;C)
Make rs74799832(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43121968
GeneRET
is asnp
is mentioned by
dbSNPrs74799832
ebirs74799832
HLIrs74799832
Exacrs74799832
Varsomers74799832
Maprs74799832
PheGenIrs74799832
hapmaprs74799832
1000 genomesrs74799832
hgdprs74799832
ensemblrs74799832
gopubmedrs74799832
geneviewrs74799832
scholarrs74799832
googlers74799832
pharmgkbrs74799832
gwascentralrs74799832
openSNPrs74799832
23andMers74799832
23andMe allrs74799832
SNP Nexus

SNPshotrs74799832
SNPdbers74799832
MSV3drs74799832
GWAS Ctlgrs74799832
Max Magnitude0
OMIM164761
Desc
Variant0013
Relatedalso
ClinVar
Risk rs74799832(C;C)
Alt rs74799832(C;C)
Reference rs74799832(T;T)
Significance Pathogenic
Disease Multiple endocrine neoplasia Thyroid carcinoma Pheochromocytoma not provided Multiple endocrine neoplasia Multiple endocrine neoplasia
Variation info
Gene RET
CLNDBN Multiple endocrine neoplasia, type 2b Thyroid carcinoma, sporadic medullary Pheochromocytoma not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia, type 2a
Reversed 0
HGVS NC_000010.10:g.43617416T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000014941.26, RCV000014942.22, RCV000014943.5, RCV000082054.5, RCV000161926.3, RCV000175096.1,


[PMID 88] The oxygen affinity of haemoglobin Tak, a variant with an elongated beta chain.

[PMID 3078962] Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.

[PMID 7536460] Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma.

[PMID 7824936] Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.

[PMID 7906417OA-icon.png] Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.

[PMID 7906866] A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

[PMID 7911697] Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.