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NM_000531.6(OTC):c.127C>T (p.Leu43Phe) AND not provided

Germline classification:
Pathogenic (1 submission)
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:
RCV000083335.1

Allele description [Variation Report for NM_000531.6(OTC):c.127C>T (p.Leu43Phe)]

NM_000531.6(OTC):c.127C>T (p.Leu43Phe)

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.127C>T (p.Leu43Phe)
HGVS:
  • NC_000023.11:g.38367340C>T
  • NG_008471.1:g.19858C>T
  • NM_000531.6:c.127C>TMANE SELECT
  • NP_000522.3:p.Leu43Phe
  • LRG_846t1:c.127C>T
  • LRG_846:g.19858C>T
  • LRG_846p1:p.Leu43Phe
  • NC_000023.10:g.38226593C>T
  • NM_000531.5:c.127C>T
  • P00480:p.Leu43Phe
Protein change:
L43F
Links:
UniProtKB: P00480#VAR_004847; dbSNP: rs72554309
NCBI 1000 Genomes Browser:
rs72554309
Molecular consequence:
  • NM_000531.6:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000115421GenMed Metabolism Lab
no assertion criteria provided
pathogenicunknownnot provided

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

Description

p.Leu43Phe, Female

SCV000115421

Help

Summary from all submissions

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

Citations

PubMed

Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

Oppliger Leibundgut E, Liechti-Gallati S, Colombo JP, Wermuth B.

Hum Mutat. 1997;9(5):409-11. No abstract available.

PubMed [citation]
PMID:
9143919

Details of each submission

From GenMed Metabolism Lab, SCV000115421.1

#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: Mar 26, 2023