rs111033334

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of an Usher syndrome type IIa mutation
(T;T)	5	Usher syndrome type IIa; Retinitis pigmentosa 39 (predicted)

Reference

GRCh38 38.1/141

Chromosome

1

Position

216247185

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs111033334
dbSNP (classic)	rs111033334
ClinGen	rs111033334
ebi	rs111033334
HLI	rs111033334
Exac	rs111033334
Gnomad	rs111033334
Varsome	rs111033334
LitVar	rs111033334
Map	rs111033334
PheGenI	rs111033334
Biobank	rs111033334
1000 genomes	rs111033334
hgdp	rs111033334
ensembl	rs111033334
geneview	rs111033334
scholar	rs111033334
google	rs111033334
pharmgkb	rs111033334
gwascentral	rs111033334
openSNP	rs111033334
23andMe	rs111033334
SNPshot	rs111033334
SNPdbe	rs111033334
MSV3d	rs111033334
GWAS Ctlg	rs111033334

Max Magnitude

5

aka c.2209C>T (p.Arg737Ter or R737X)

OMIM	608400
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs111033334(T;T)
Alt	Rs111033334(T;T)
Reference	Rs111033334(C;C)
Significance	Pathogenic
Disease	Usher syndrome Retinitis pigmentosa 39
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A Retinitis pigmentosa 39
Reversed	1
HGVS	NC_000001.10:g.216420527G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002456.6, RCV000002457.5,

[PMID 17296898] Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

[PMID 18452394] Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.