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NM_000531.6(OTC):c.646C>G (p.Gln216Glu) 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:
RCV000083523.1

Allele description [Variation Report for NM_000531.6(OTC):c.646C>G (p.Gln216Glu)]

NM_000531.6(OTC):c.646C>G (p.Gln216Glu)

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.646C>G (p.Gln216Glu)
HGVS:
  • NC_000023.11:g.38403723C>G
  • NG_008471.1:g.56241C>G
  • NM_000531.6:c.646C>GMANE SELECT
  • NP_000522.3:p.Gln216Glu
  • LRG_846t1:c.646C>G
  • LRG_846:g.56241C>G
  • LRG_846p1:p.Gln216Glu
  • NC_000023.10:g.38262976C>G
  • NM_000531.5:c.646C>G
  • P00480:p.Gln216Glu
Protein change:
Q216E; GLN216GLU
Links:
UniProtKB: P00480#VAR_004911; OMIM: 300461.0005; dbSNP: rs72558423
NCBI 1000 Genomes Browser:
rs72558423
Molecular consequence:
  • NM_000531.6:c.646C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000115609GenMed Metabolism Lab
no assertion criteria provided
pathogenicunknownnot provided

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

Description

p.Gln216Glu, Neonatal

SCV000115609

Help

Summary from all submissions

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

Citations

PubMed

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.

Grompe M, Muzny DM, Caskey CT.

Proc Natl Acad Sci U S A. 1989 Aug;86(15):5888-92.

PubMed [citation]
PMID:
2474822
PMCID:
PMC297736

Details of each submission

From GenMed Metabolism Lab, SCV000115609.1

#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: Aug 19, 2023