NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter) AND Retinitis pigmentosa

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

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000201436.1

Allele description [Variation Report for NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)]

NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)

Gene:
PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)
HGVS:
  • NC_000002.12:g.29073550T>A
  • NG_021427.1:g.5712A>T
  • NM_001029883.3:c.712A>TMANE SELECT
  • NP_001025054.1:p.Lys238Ter
  • NC_000002.11:g.29296416T>A
  • NM_001029883.2:c.712A>T
Protein change:
K238*
Links:
dbSNP: rs863223344
NCBI 1000 Genomes Browser:
rs863223344
Molecular consequence:
  • NM_001029883.3:c.712A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration; Retinotapetal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000; Human Phenotype Ontology: HP:0000547

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000223716Genetics Research Center, University of Social Welfare and Rehabilitation Sciences - Retinitis Pigmentosacriteria provided, single submitter
Pathogenic
(Jan 1, 2015)
germlineresearch

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

Description

Identification of disease-causing mutations in Iranian patients with autosomal recessive retinitis pigmentosa

SCV000223716

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes31not providednot providednot providedresearch

Citations

PubMed

Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H.

Arch Iran Med. 2015 Nov;18(11):776-85. doi: 0151811/AIM.009.

PubMed [citation]
PMID:
26497376

Details of each submission

From Genetics Research Center, University of Social Welfare and Rehabilitation Sciences - Retinitis Pigmentosa, SCV000223716.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences

Last Updated: Oct 7, 2021

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