NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter) AND Usher syndrome type 2

Clinical significance:Pathogenic (Last evaluated: Jun 23, 2019)

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:
RCV001003253.1

Allele description [Variation Report for NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)]

NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)
HGVS:
  • NC_000001.11:g.215671082T>A
  • NG_009497.1:g.757315A>T
  • NG_009497.2:g.757367A>T
  • NM_206933.4:c.14023A>TMANE SELECT
  • NP_996816.3:p.Arg4675Ter
  • NC_000001.10:g.215844424T>A
  • NM_206933.2:c.14023A>T
Protein change:
R4675*
Links:
dbSNP: rs1571945476
NCBI 1000 Genomes Browser:
rs1571945476
Molecular consequence:
  • NM_206933.4:c.14023A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Usher syndrome type 2
Identifiers:
MONDO: MONDO:0016484; MedGen: C0339534

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001161333Sharon lab,Hadassah-Hebrew University Medical Centerno assertion criteria providedPathogenic
(Jun 23, 2019)
inheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab,Hadassah-Hebrew University Medical Center, SCV001161333.1

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

Last Updated: Nov 27, 2021

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