NM_000531.5(OTC):c.830G>A (p.Arg277Gln) AND not provided

Clinical significance:Pathogenic

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:
RCV000083587.1

Allele description [Variation Report for NM_000531.5(OTC):c.830G>A (p.Arg277Gln)]

NM_000531.5(OTC):c.830G>A (p.Arg277Gln)

Gene:
OTC:ornithine carbamoyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.5(OTC):c.830G>A (p.Arg277Gln)
HGVS:
  • NC_000023.11:g.38408988G>A
  • NG_008471.1:g.61506G>A
  • NM_000531.5:c.830G>A
  • NP_000522.3:p.Arg277Gln
  • NC_000023.10:g.38268241G>A
  • P00480:p.Arg277Gln
Protein change:
R277Q
Links:
UniProtKB: P00480#VAR_004929; dbSNP: rs66724222
NCBI 1000 Genomes Browser:
rs66724222
Molecular consequence:
  • NM_000531.5:c.830G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115673GenMed Metabolism Labno assertion criteria providedpathogenicunknownnot provided

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

Description

p.Arg277Gln, Late, CpG dinucleotide, increased Km for ornithine

SCV000115673

Summary from all submissions

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

Citations

PubMed

Seven new mutations in the human ornithine transcarbamylase gene.

Tuchman M, Plante RJ, McCann MT, Qureshi AA.

Hum Mutat. 1994;4(1):57-60. No abstract available.

PubMed [citation]
PMID:
7951259

Details of each submission

From GenMed Metabolism Lab, SCV000115673.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2018