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NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly) AND Lowe syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000059589.1

Allele description [Variation Report for NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly)]

NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly)

Gene:
OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.1
Genomic location:
Preferred name:
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly)
HGVS:
  • NC_000023.11:g.129567266C>G
  • NG_008638.1:g.31992C>G
  • NM_000276.4:c.1369C>GMANE SELECT
  • NM_001318784.2:c.1372C>G
  • NM_001587.4:c.1369C>G
  • NP_000267.2:p.Arg457Gly
  • NP_001305713.1:p.Arg458Gly
  • NP_001578.2:p.Arg457Gly
  • NC_000023.10:g.128701243C>G
  • NM_000276.3:c.1369C>G
  • Q01968:p.Arg457Gly
Protein change:
R457G
Links:
UniProtKB: Q01968#VAR_064783; UniProtKB/Swiss-Prot: VAR_064783; dbSNP: rs137853839
NCBI 1000 Genomes Browser:
rs137853839
Molecular consequence:
  • NM_000276.4:c.1369C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318784.2:c.1372C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001587.4:c.1369C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lowe syndrome (OCRL)
Synonyms:
Oculocerebrorenal Syndrome; Lowe oculocerebrorenal syndrome; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
Identifiers:
MONDO: MONDO:0010645; MedGen: C0028860; Orphanet: 534; OMIM: 309000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000091121UniProtKB/Swiss-Prot
no classification provided
not providedgermlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, Baujat G, Blanchard A, Nobili F, Ranchin B, Remesy M, Salomon R, Satre V, Lunardi J.

Hum Mutat. 2011 Apr;32(4):379-88. doi: 10.1002/humu.21391. Epub 2011 Mar 10.

PubMed [citation]
PMID:
21031565

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091121.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022