NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln) AND Cone-rod dystrophy

Clinical significance:Uncertain significance (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:
RCV000678642.1

Allele description [Variation Report for NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln)]

NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln)
HGVS:
  • NC_000001.11:g.215782169C>T
  • NG_009497.1:g.646228G>A
  • NM_206933.3:c.10613G>A
  • NP_996816.2:p.Arg3538Gln
  • NC_000001.10:g.215955511C>T
  • NM_206933.2:c.10613G>A
Protein change:
R3538Q
Links:
dbSNP: rs774844491
NCBI 1000 Genomes Browser:
rs774844491
Molecular consequence:
  • NM_206933.3:c.10613G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cone-rod dystrophy
Synonyms:
Cone/cone-rod dystrophy
Identifiers:
MONDO: MONDO:0015993; MedGen: C4085590; OMIM: PS120970; Human Phenotype Ontology: HP:0000548

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000804730Human Genetics - Radboudumc,Radboudumcno assertion criteria providedUncertain significance
(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, SCV000804730.2

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

Last Updated: Oct 7, 2021

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