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rs80338902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338902(G;T)
Make rs80338902(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position216247118
GeneUSH2A
is asnp
is mentioned by
dbSNPrs80338902
ebirs80338902
HLIrs80338902
Exacrs80338902
Varsomers80338902
Maprs80338902
PheGenIrs80338902
hapmaprs80338902
1000 genomesrs80338902
hgdprs80338902
ensemblrs80338902
gopubmedrs80338902
geneviewrs80338902
scholarrs80338902
googlers80338902
pharmgkbrs80338902
gwascentralrs80338902
openSNPrs80338902
23andMers80338902
23andMe allrs80338902
SNP Nexus

SNPshotrs80338902
SNPdbers80338902
MSV3drs80338902
GWAS Ctlgrs80338902
GMAF0.0004591
Max Magnitude0
OMIM608400
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80338902(T;T)
Alt rs80338902(T;T)
Reference rs80338902(G;G)
Significance Other
Disease Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome not provided
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome, type 2A not provided
Reversed 1
HGVS NC_000001.10:g.216420460C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002450.5, RCV000032523.2, RCV000041811.3, RCV000174625.1, RCV000239000.1,


[PMID 10775529OA-icon.png] Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.


[PMID 12427073] Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.


[PMID 10775] [Does anesthesia have an immunosuppressive effect?].


[PMID 10909849] Identification of novel USH2A mutations: implications for the structure of USH2A protein.


[PMID 12112664] Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.


[PMID 14970843] Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.


[PMID 15325563] Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.


[PMID 16098008] Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.