U.S. flag

An official website of the United States government

NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) AND Autosomal recessive retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 10, 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:
RCV001257816.1

Allele description [Variation Report for NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)]

NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)

Gene:
RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
HGVS:
  • NC_000001.11:g.68446824C>T
  • NG_008472.2:g.8136G>A
  • NM_000329.3:c.131G>AMANE SELECT
  • NP_000320.1:p.Arg44Gln
  • NC_000001.10:g.68912507C>T
  • NG_008472.1:g.8136G>A
  • NM_000329.2:c.131G>A
  • Q16518:p.Arg44Gln
  • p.(Arg44Gln)
Protein change:
R44Q
Links:
UniProtKB: Q16518#VAR_017128; dbSNP: rs61751282
NCBI 1000 Genomes Browser:
rs61751282
Molecular consequence:
  • NM_000329.3:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive retinitis pigmentosa
Identifiers:
MedGen: C0339526

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434600Faculty of Health Sciences, Beirut Arab University
no assertion criteria provided
Pathogenic
(Sep 10, 2015)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, et al.

Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10.

PubMed [citation]
PMID:
26355662

Details of each submission

From Faculty of Health Sciences, Beirut Arab University, SCV001434600.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024