rs74799832

Orientation

plus

Stabilized

plus

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

Make rs74799832(C;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

43121968

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs74799832
dbSNP (classic)	rs74799832
ClinGen	rs74799832
ebi	rs74799832
HLI	rs74799832
Exac	rs74799832
Gnomad	rs74799832
Varsome	rs74799832
LitVar	rs74799832
Map	rs74799832
PheGenI	rs74799832
Biobank	rs74799832
1000 genomes	rs74799832
hgdp	rs74799832
ensembl	rs74799832
geneview	rs74799832
scholar	rs74799832
google	rs74799832
pharmgkb	rs74799832
gwascentral	rs74799832
openSNP	rs74799832
23andMe	rs74799832
SNPshot	rs74799832
SNPdbe	rs74799832
MSV3d	rs74799832
GWAS Ctlg	rs74799832

Max Magnitude

5.1

OMIM	164761
Desc
Variant	0013
Related	also

ClinVar
Risk	rs74799832(C;C)
Alt	rs74799832(C;C)
Reference	Rs74799832(T;T)
Significance	Other
Disease	Multiple endocrine neoplasia Thyroid carcinoma Pheochromocytoma not provided Multiple endocrine neoplasia Multiple endocrine neoplasia Constipation Gingival overgrowth Hypertelorism Hypothyroidism Joint hypermobility Short stature Tetralogy of Fallot Thick vermilion border Medullary thyroid carcinoma Multiple endocrine neoplasia Neoplasm of the thyroid gland 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 Constipation Gingival overgrowth Hypertelorism Hypothyroidism Joint hypermobility Short stature Tetralogy of Fallot Thick vermilion border Medullary thyroid carcinoma Multiple endocrine neoplasia, type 1 Neoplasm of the thyroid gland Multiple endocrine neoplasia, type 4
Reversed	0
HGVS	NC_000010.10:g.43617416T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014941.27, RCV000014942.23, RCV000014943.6, RCV000082054.7, RCV000161926.4, RCV000175096.2, RCV000415312.1, RCV000417859.1, RCV000425499.1, RCV000428538.1, RCV000444529.1,

[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 7906417] 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.