NM_000531.6(OTC):c.167T>C (p.Met56Thr) AND not specified

Clinical significance:Likely pathogenic (Last evaluated: Feb 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000507068.2

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000604578ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Feb 2, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604578.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center