NM_000531.6(OTC):c.167T>C (p.Met56Thr) 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:
RCV000083354.1

Allele description [Variation Report for NM_000531.6(OTC):c.167T>C (p.Met56Thr)]

NM_000531.6(OTC):c.167T>C (p.Met56Thr)

Gene:
OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.6(OTC):c.167T>C (p.Met56Thr)
HGVS:
  • NC_000023.11:g.38367380T>C
  • NG_008471.1:g.19898T>C
  • NM_000531.6:c.167T>CMANE SELECT
  • NP_000522.3:p.Met56Thr
  • LRG_846t1:c.167T>C
  • LRG_846:g.19898T>C
  • LRG_846p1:p.Met56Thr
  • NC_000023.10:g.38226633T>C
  • NM_000531.5:c.167T>C
  • P00480:p.Met56Thr
Protein change:
M56T
Links:
UniProtKB: P00480#VAR_004855; dbSNP: rs72554320
NCBI 1000 Genomes Browser:
rs72554320
Molecular consequence:
  • NM_000531.6:c.167T>C - 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
SCV000115440GenMed Metabolism Labno assertion criteria providedpathogenicunknownnot provided

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

Description

p.Met56Thr, Late

SCV000115440

Summary from all submissions

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

Citations

PubMed

Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM.

J Inherit Metab Dis. 1997 Aug;20(4):525-7.

PubMed [citation]
PMID:
9266388

Details of each submission

From GenMed Metabolism Lab, SCV000115440.1

#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: Nov 27, 2021

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