NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) AND Cone-rod dystrophy

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2018)

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:
RCV000787726.1

Allele description [Variation Report for NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)]

NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
HGVS:
  • NC_000001.11:g.215640615G>A
  • NG_009497.1:g.787782C>T
  • NG_009497.2:g.787834C>T
  • NM_206933.4:c.14911C>TMANE SELECT
  • NP_996816.3:p.Arg4971Ter
  • NC_000001.10:g.215813957G>A
  • NM_206933.2:c.14911C>T
  • c.14911C>T
  • p.Arg4971X
Protein change:
R4971*
Links:
dbSNP: rs397517994
NCBI 1000 Genomes Browser:
rs397517994
Molecular consequence:
  • NM_206933.4:c.14911C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000926726Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet - VeluxRDno assertion criteria providedPathogenic
(Apr 1, 2018)
unknownresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]
PMID:
30718709
PMCID:
PMC6362094

Details of each submission

From Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet - VeluxRD, SCV000926726.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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