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NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) 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:
RCV000504689.1

Allele description [Variation Report for NM_006269.2(RP1):c.2285_2289del (p.Leu762fs)]

NM_006269.2(RP1):c.2285_2289del (p.Leu762fs)

Gene:
RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8q12.1
Genomic location:
Preferred name:
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs)
HGVS:
  • NC_000008.11:g.54626162TAAAT[1]
  • NG_009840.2:g.15096TAAAT[1]
  • NM_001375654.1:c.787+3879_787+3883del
  • NM_006269.2:c.2285_2289delMANE SELECT
  • NP_006260.1:p.Leu762fs
  • NC_000008.10:g.55538722TAAAT[1]
  • NC_000008.10:g.55538722_55538726del
  • NM_006269.1:c.2285_2289del
  • NM_006269.1:c.2285_2289delTAAAT
Note:
NCBI staff reviewed the sequence information reported in PubMed 10391211 Fig. 6a to determine the location of this allele on the current reference sequence.
Protein change:
L762fs
Links:
OMIM: 603937.0002; dbSNP: rs869320726
NCBI 1000 Genomes Browser:
rs869320726
Molecular consequence:
  • NM_006269.2:c.2285_2289del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375654.1:c.787+3879_787+3883del - intron variant - [Sequence Ontology: SO:0001627]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000598686NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenic
(Jan 1, 2015)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP.

Nat Genet. 1999 Jul;22(3):248-54.

PubMed [citation]
PMID:
10391211

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, SCV000598686.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024