NM_206933.4(USH2A):c.908G>A (p.Arg303His) AND Hearing impairment

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Oct 8, 2018)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000754554.2

Allele description [Variation Report for NM_206933.4(USH2A):c.908G>A (p.Arg303His)]

NM_206933.4(USH2A):c.908G>A (p.Arg303His)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
HGVS:
  • NC_000001.11:g.216325540C>T
  • NG_009497.1:g.102857G>A
  • NG_009497.2:g.102909G>A
  • NM_007123.6:c.908G>A
  • NM_206933.4:c.908G>AMANE SELECT
  • NP_009054.6:p.Arg303His
  • NP_996816.3:p.Arg303His
  • NC_000001.10:g.216498882C>T
  • NM_206933.2:c.908G>A
  • NM_206933.3:c.908G>A
Protein change:
R303H
Links:
dbSNP: rs371777049
NCBI 1000 Genomes Browser:
rs371777049
Molecular consequence:
  • NM_007123.6:c.908G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.908G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hearing impairment
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000853292Center for Statistical Genetics, Columbia Universityno assertion criteria providedPathogenic
(Oct 8, 2018)
germlineresearch

SCV001439132University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenicinheritedresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM.

Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14.

PubMed [citation]
PMID:
30872814
PMCID:
PMC6777543

Details of each submission

From Center for Statistical Genetics, Columbia University, SCV000853292.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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