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NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) AND Retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000505037.1

Allele description [Variation Report for NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)]

NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)

Gene:
CLRN1:clarin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q25.1
Genomic location:
Preferred name:
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
HGVS:
  • NC_000003.12:g.150972520G>T
  • NG_009168.1:g.5480C>A
  • NM_001195794.1:c.189C>A
  • NM_001256819.2:c.189C>A
  • NM_174878.3:c.189C>AMANE SELECT
  • NP_001182723.1:p.Tyr63Ter
  • NP_001243748.1:p.Tyr63Ter
  • NP_777367.1:p.Tyr63Ter
  • LRG_700t1:c.189C>A
  • LRG_700:g.5480C>A
  • LRG_700p1:p.Tyr63Ter
  • NC_000003.11:g.150690307G>T
  • NM_174878.3:c.189C>A
  • NR_046380.3:n.208C>A
  • c.189C>A
  • p.Tyr63X
Protein change:
Y63*; TYR63TER
Links:
OMIM: 606397.0006; dbSNP: rs111033267
NCBI 1000 Genomes Browser:
rs111033267
Molecular consequence:
  • NR_046380.3:n.208C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001195794.1:c.189C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001256819.2:c.189C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_174878.3:c.189C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000598874NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenic
(Jan 1, 2015) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
NAunknownyes1not providednot provided1not providedresearch

Citations

PubMed

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D.

Eur J Hum Genet. 2002 Jun;10(6):339-50.

PubMed [citation]
PMID:
12080385

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598874.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1NA1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 17, 2024