rs119103277

Orientation

plus

Stabilized

plus

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

Make rs119103277(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142110

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs119103277
dbSNP (classic)	rs119103277
ClinGen	rs119103277
ebi	rs119103277
HLI	rs119103277
Exac	rs119103277
Gnomad	rs119103277
Varsome	rs119103277
LitVar	rs119103277
Map	rs119103277
PheGenI	rs119103277
Biobank	rs119103277
1000 genomes	rs119103277
hgdp	rs119103277
ensembl	rs119103277
geneview	rs119103277
scholar	rs119103277
google	rs119103277
pharmgkb	rs119103277
gwascentral	rs119103277
openSNP	rs119103277
23andMe	rs119103277
SNPshot	rs119103277
SNPdbe	rs119103277
MSV3d	rs119103277
GWAS Ctlg	rs119103277

Max Magnitude

7

aka c.263G>A (p.Trp88Ter or W88X) and also c.263G>C (p.Trp88Ser or W88S), both of which are pathogenic

23andMe name for c.263G>C: i5006371

OMIM	608537
Desc
Variant	0007
Related	also

ClinVar
Risk	rs119103277(A;A) rs119103277(C;C)
Alt	rs119103277(A;A) rs119103277(C;C)
Reference	Rs119103277(G;G)
Significance	Pathogenic
Disease	not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Hemangioblastoma
Variation	info
Gene	VHL
CLNDBN	not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Hemangioblastoma, sporadic cerebellar
Reversed	0
HGVS	NC_000003.11:g.10183794G>A; NC_000003.11:g.10183794G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000161086.2, RCV000208798.1, RCV000492395.1, RCV000002305.2, RCV000002306.2,