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rs75076352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs75076352(G;G)
Make rs75076352(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43114500
GeneRET
is asnp
is mentioned by
dbSNPrs75076352
ebirs75076352
HLIrs75076352
Exacrs75076352
Varsomers75076352
Maprs75076352
PheGenIrs75076352
hapmaprs75076352
1000 genomesrs75076352
hgdprs75076352
ensemblrs75076352
gopubmedrs75076352
geneviewrs75076352
scholarrs75076352
googlers75076352
pharmgkbrs75076352
gwascentralrs75076352
openSNPrs75076352
23andMers75076352
23andMe allrs75076352
SNP Nexus

SNPshotrs75076352
SNPdbers75076352
MSV3drs75076352
GWAS Ctlgrs75076352
Max Magnitude0
OMIM164761
Desc
Variant0011
Relatedalso
ClinVar
Risk rs75076352(A,C,G;A,C,G)
Alt rs75076352(A,C,G;A,C,G)
Reference rs75076352(T;T)
Significance Pathogenic
Disease MEN2A and Unclassified Multiple endocrine neoplasia Pheochromocytoma MEN2A and FMTC not provided Hereditary cancer-predisposing syndrome
Variation info
Gene RET
CLNDBN MEN2A and Unclassified Multiple endocrine neoplasia, type 2a Pheochromocytoma MEN2A and FMTC not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.43609948T>A; NC_000010.10:g.43609948T>C; NC_000010.10:g.43609948T>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000021820.1, RCV000014920.25, RCV000014937.26, RCV000014938.25, RCV000021821.1, RCV000082051.5, RCV000163338.1, RCV000014922.25, RCV000014923.25, RCV000021822.1, RCV000182581.1,


[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 8825918OA-icon.png] Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.

[PMID 9111993] A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.

[PMID 12000816] Germ-line mutations in nonsyndromic pheochromocytoma.

[PMID 2904651] Cushing's syndrome due to ectopic ACTH secretion by bilateral pheochromocytomas in multiple endocrine neoplasia type 2A.

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

[PMID 7849700] Haplotype analysis of MEN 2 mutations.

[PMID 7907913] Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.

[PMID 10522989] A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.