NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs) AND Usher syndrome, type 2A

Clinical significance:Pathogenic (Last evaluated: Dec 10, 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:
RCV001174953.1

Allele description [Variation Report for NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)]

NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)
HGVS:
  • NC_000001.11:g.215674446_215674447insAC
  • NG_009497.1:g.753951_753952insTG
  • NG_009497.2:g.754003_754004insTG
  • NM_206933.4:c.13465_13466insTGMANE SELECT
  • NP_996816.3:p.Gly4489fs
  • NC_000001.10:g.215847788_215847789insAC
  • NM_206933.3:c.13465_13466insTG
Protein change:
G4489fs
Links:
dbSNP: rs1657929865
NCBI 1000 Genomes Browser:
rs1657929865
Molecular consequence:
  • NM_206933.4:c.13465_13466insTG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Usher syndrome, type 2A (USH2A)
Synonyms:
USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:
MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001338414National Institute on Deafness and Communication Disorders,National Institutes of Healthno assertion criteria providedPathogenic
(Dec 10, 2019)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1yesresearch

Details of each submission

From National Institute on Deafness and Communication Disorders,National Institutes of Health, SCV001338414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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