NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) 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:
RCV001003291.1

Allele description [Variation Report for NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)]

NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
HGVS:
  • NC_000001.11:g.216422098_216422101dup
  • NG_009497.1:g.6296_6299dup
  • NG_009497.2:g.6348_6351dup
  • NM_007123.6:c.236_239dup
  • NM_206933.4:c.236_239dupMANE SELECT
  • NP_009054.6:p.Gln81fs
  • NP_996816.3:p.Gln81fs
  • NC_000001.10:g.216595439_216595440insGTAC
  • NC_000001.10:g.216595440_216595443dup
  • NM_206933.2:c.236_239dup
  • NM_206933.2:c.236_239dupGTAC
Protein change:
Q81fs
Links:
dbSNP: rs1553258097
NCBI 1000 Genomes Browser:
rs1553258097
Molecular consequence:
  • NM_007123.6:c.236_239dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.236_239dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001161374Sharon 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, SCV001161374.1

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

Last Updated: Oct 25, 2021

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