NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup AND Usher syndrome, type 2A

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2016)

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:
RCV000678637.1

Allele description [Variation Report for NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup]

NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup

Genes:
LOC122152296:Sharpr-MPRA regulatory region 8762 [Gene]
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A-AS2:USH2A antisense RNA 2 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q41
Genomic location:
Chr1: 216073301 - 216364952 (on Assembly GRCh38)
Preferred name:
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
HGVS:
  • NC_000001.11:g.(216073301_216078088)_(216327655_216364952)dup
  • NG_009497.1:g.(63445_100742)_(350309_355096)dup
  • NM_206933.2:c.(784+1_785-1)_(5572+1_5573-1)dup
Observations:
1

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
SCV000804725Human Genetics - Radboudumc,Radboudumcno assertion criteria providedPathogenic
(Sep 1, 2016)
inheritedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Human Genetics - Radboudumc,Radboudumc, SCV000804725.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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