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NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro) AND Autosomal recessive retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 3, 2018
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:
RCV001257906.1

Allele description [Variation Report for NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro)]

NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro)
HGVS:
  • NC_000001.11:g.216198363C>G
  • NG_009497.1:g.230034G>C
  • NG_009497.2:g.230086G>C
  • NM_007123.6:c.4033G>C
  • NM_206933.4:c.4033G>CMANE SELECT
  • NP_009054.6:p.Ala1345Pro
  • NP_996816.3:p.Ala1345Pro
  • NC_000001.10:g.216371705C>G
  • NM_206933.2:c.4033G>C
  • p.(Ala1345Pro)
Protein change:
A1345P
Links:
dbSNP: rs2034900559
NCBI 1000 Genomes Browser:
rs2034900559
Molecular consequence:
  • NM_007123.6:c.4033G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.4033G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001434722Faculty of Health Sciences, Beirut Arab University
no assertion criteria provided
Pathogenic
(Sep 3, 2018)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes3not providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, et al.

Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3.

PubMed [citation]
PMID:
30054919

Details of each submission

From Faculty of Health Sciences, Beirut Arab University, SCV001434722.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab3not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Apr 23, 2022