rs111033290

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	Usher syndrome type 1 (predicted)
(A;G)	3	Carrier of an Usher syndrome, type 1 mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

77175465

Gene

MYO7A

is a	snp
is	mentioned by
dbSNP	rs111033290
dbSNP (classic)	rs111033290
ClinGen	rs111033290
ebi	rs111033290
HLI	rs111033290
Exac	rs111033290
Gnomad	rs111033290
Varsome	rs111033290
LitVar	rs111033290
Map	rs111033290
PheGenI	rs111033290
Biobank	rs111033290
1000 genomes	rs111033290
hgdp	rs111033290
ensembl	rs111033290
geneview	rs111033290
scholar	rs111033290
google	rs111033290
pharmgkb	rs111033290
gwascentral	rs111033290
openSNP	rs111033290
23andMe	rs111033290
SNPshot	rs111033290
SNPdbe	rs111033290
MSV3d	rs111033290
GWAS Ctlg	rs111033290

Max Magnitude

5

aka c.2187+1G>A

ClinVar
Risk	Rs111033290(A;A)
Alt	Rs111033290(A;A)
Reference	Rs111033290(G;G)
Significance	Probable-Pathogenic
Disease	Usher syndrome
Variation	info
Gene	MYO7A
CLNDBN	Usher syndrome, type 1
Reversed	0
HGVS	NC_000011.9:g.76886511G>A
CLNSRC	ClinVar
CLNACC	RCV000036079.2,

[PMID 9382091] Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

[PMID 15028842] The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

[PMID 19074810] Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.