rs5030823

plus

Geno	Mag	Summary
(A;C)	7	Von Hippel-Lindau syndrome mutation
(C;C)	0	common in complete genomics
(C;G)	7	Von Hippel-Lindau syndrome mutation

Make rs5030823(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149871

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030823
dbSNP (classic)	rs5030823
ClinGen	rs5030823
ebi	rs5030823
HLI	rs5030823
Exac	rs5030823
Gnomad	rs5030823
Varsome	rs5030823
LitVar	rs5030823
Map	rs5030823
PheGenI	rs5030823
Biobank	rs5030823
1000 genomes	rs5030823
hgdp	rs5030823
ensembl	rs5030823
geneview	rs5030823
scholar	rs5030823
google	rs5030823
pharmgkb	rs5030823
gwascentral	rs5030823
openSNP	rs5030823
23andMe	rs5030823
SNPshot	rs5030823
SNPdbe	rs5030823
MSV3d	rs5030823
GWAS Ctlg	rs5030823

Max Magnitude

7

aka c.548C>A (p.Ser183Ter or S183X), which is pathogenic; also c.548C>G (p.Ser183Trp or S183W), likely to be pathogenic; and also c.548C>T (p.Ser183Leu or S183L), a variant of uncertain significance

23andMe name for c.548C>A variant: i3003392

OMIM	608537
Desc
Variant	0002
Related	also

ClinVar
Risk	rs5030823(A;A) rs5030823(G;G) rs5030823(T;T)
Alt	rs5030823(A;A) rs5030823(G;G) rs5030823(T;T)
Reference	Rs5030823(C;C)
Significance	Pathogenic
Disease	Renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Erythrocytosis
Variation	info
Gene	VHL
CLNDBN	Renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Erythrocytosis, familial, 2
Reversed	0
HGVS	NC_000003.11:g.10191555C>A; NC_000003.11:g.10191555C>G; NC_000003.11:g.10191555C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002299.4, RCV000208867.1, RCV000203537.1, RCV000476376.1,