NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) AND Usher syndrome

Clinical significance:Uncertain significance (Last evaluated: Jan 1, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000504687.2

Allele description [Variation Report for NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)]

NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
HGVS:
  • NC_000001.11:g.216200043C>T
  • NG_009497.1:g.228354G>A
  • NG_009497.2:g.228406G>A
  • NM_007123.6:c.3395G>A
  • NM_206933.4:c.3395G>AMANE SELECT
  • NP_009054.6:p.Gly1132Asp
  • NP_996816.3:p.Gly1132Asp
  • NC_000001.10:g.216373385C>T
  • NM_007123.5:c.3395G>A
  • NM_206933.2:c.3395G>A
  • NM_206933.3:c.3395G>A
Protein change:
G1132D
Links:
dbSNP: rs34596189
NCBI 1000 Genomes Browser:
rs34596189
Molecular consequence:
  • NM_007123.6:c.3395G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3395G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome
Synonyms:
Usher Syndromes; Usher's syndrome
Identifiers:
MONDO: MONDO:0019501; MeSH: D052245; MedGen: C0271097; Orphanet: 886; OMIM: PS276900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000598806NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedUncertain significance
(Jan 1, 2015)
unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asianunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Molecular epidemiology of Usher syndrome in Italy.

Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P.

Mol Vis. 2011;17:1662-8. Epub 2011 Jun 22.

PubMed [citation]
PMID:
21738395
PMCID:
PMC3130723

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598806.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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