NM_153676.4(USH1C):c.7C>T (p.Arg3Ter) AND Usher syndrome, type 1C

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2015)

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:
RCV000240666.1

Allele description [Variation Report for NM_153676.4(USH1C):c.7C>T (p.Arg3Ter)]

NM_153676.4(USH1C):c.7C>T (p.Arg3Ter)

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter)
HGVS:
  • NC_000011.10:g.17544301G>A
  • NG_011883.1:g.5116C>T
  • NG_011883.2:g.5116C>T
  • NG_033191.1:g.1929G>A
  • NG_033191.2:g.1929G>A
  • NM_001297764.2:c.7C>T
  • NM_005709.4:c.7C>T
  • NM_153676.4:c.7C>TMANE SELECT
  • NP_001284693.1:p.Arg3Ter
  • NP_005700.2:p.Arg3Ter
  • NP_710142.1:p.Arg3Ter
  • NC_000011.9:g.17565848G>A
  • NM_005709.3:c.7C>T
  • NR_123738.2:n.116C>T
Protein change:
R3*
Links:
dbSNP: rs876657624
NCBI 1000 Genomes Browser:
rs876657624
Molecular consequence:
  • NR_123738.2:n.116C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001297764.2:c.7C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005709.4:c.7C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153676.4:c.7C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Usher syndrome, type 1C (USH1C)
Synonyms:
USHER SYNDROME, TYPE I, ACADIAN VARIETY; Usher syndrome, Acadian variety
Identifiers:
MONDO: MONDO:0010171; MedGen: C1848604; Orphanet: 231169; Orphanet: 886; OMIM: 276904

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000257363Centre de Biotechnologie de Sfax,Université de Sfaxno assertion criteria providedPathogenic
(Apr 1, 2015)
inheritedresearch

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

Description

This truncating mutation is expected to result in the absence of synthesized protein due to mRNA nonsense mediated decay.

SCV000257363

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes4not providednot providednot providednot providedresearch

Citations

PubMed

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

Ben-Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, Ghorbel A, Petit C, Masmoudi S.

Mol Vis. 2016;22:827-35.

PubMed [citation]
PMID:
27440999
PMCID:
PMC4950652

Details of each submission

From Centre de Biotechnologie de Sfax,Université de Sfax, SCV000257363.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Jun 14, 2021

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