NM_001029883.3(PCARE):c.1525del (p.Thr509fs) AND Autosomal recessive retinitis pigmentosa

Clinical significance:Pathogenic (Last evaluated: Oct 26, 2012)

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:
RCV001257857.1

Allele description [Variation Report for NM_001029883.3(PCARE):c.1525del (p.Thr509fs)]

NM_001029883.3(PCARE):c.1525del (p.Thr509fs)

Gene:
PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_001029883.3(PCARE):c.1525del (p.Thr509fs)
HGVS:
  • NC_000002.12:g.29072742del
  • NG_021427.1:g.6525del
  • NM_001029883.3:c.1525delMANE SELECT
  • NP_001025054.1:p.Thr509fs
  • NC_000002.11:g.29295608del
  • NM_001029883.2:c.1525del
  • NM_001029883.2:c.1525delA
  • p.(Thr509Leufs*32)
Protein change:
T509fs
Molecular consequence:
  • NM_001029883.3:c.1525del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive retinitis pigmentosa
Identifiers:
MedGen: C0339526

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434624Faculty of Health Sciences,Beirut Arab Universityno assertion criteria providedPathogenic
(Oct 26, 2012)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes2not providednot providednot providednot providedliterature only

Citations

PubMed

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS.

Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.

PubMed [citation]
PMID:
23105016
PMCID:
PMC3561865

Details of each submission

From Faculty of Health Sciences,Beirut Arab University, SCV001434624.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab2not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jan 16, 2021

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