rs5030818

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	7	Von Hippel-Lindau syndrome mutation

Make rs5030818(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149804

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030818
dbSNP (classic)	rs5030818
ClinGen	rs5030818
ebi	rs5030818
HLI	rs5030818
Exac	rs5030818
Gnomad	rs5030818
Varsome	rs5030818
LitVar	rs5030818
Map	rs5030818
PheGenI	rs5030818
Biobank	rs5030818
1000 genomes	rs5030818
hgdp	rs5030818
ensembl	rs5030818
geneview	rs5030818
scholar	rs5030818
google	rs5030818
pharmgkb	rs5030818
gwascentral	rs5030818
openSNP	rs5030818
23andMe	rs5030818
SNPshot	rs5030818
SNPdbe	rs5030818
MSV3d	rs5030818
GWAS Ctlg	rs5030818

Max Magnitude

7

aka c.481C>T (p.Arg161Ter or R161X)

note 23andMe tests a different variant, c.481C>G, under the name i3003389

OMIM	608537
Desc
Variant	0006
Related	also

ClinVar
Risk	rs5030818(G;G) rs5030818(T;T)
Alt	rs5030818(G;G) rs5030818(T;T)
Reference	Rs5030818(C;C)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome not provided Renal cell carcinoma Erythrocytosis Hereditary cancer-predisposing syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome not provided Renal cell carcinoma Erythrocytosis, familial, 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.10191488C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002301.4, RCV000161091.2, RCV000437445.1, RCV000464068.1, RCV000492225.1,

[PMID 192708] Detection and semiquantitative estimation of thyroxine and diiodothyronine in liothyronine sodium.

[PMID 7987327] A novel mutation in the von Hippel-Lindau gene.

[PMID 12114495] Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

[PMID 12202531] Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

[PMID 12351569] The pressure rises: update on the genetics of phaeochromocytoma.

[PMID 18584357] A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.