NM_006894.5(FMO3):c.591_592delTG (p.Cys197Terfs) AND Trimethylaminuria

Clinical significance:Pathogenic (Last evaluated: Mar 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000490504.1

Allele description

NM_006894.5(FMO3):c.591_592delTG (p.Cys197Terfs)

Gene:
FMO3:flavin containing monooxygenase 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_006894.5(FMO3):c.591_592delTG (p.Cys197Terfs)
HGVS:
  • NC_000001.11:g.171108185_171108186delTG
  • NG_012690.1:g.22309_22310delTG
  • NM_001002294.2:c.591_592delTG
  • NM_006894.5:c.591_592delTG
  • NP_001002294.1:p.Cys197Terfs
  • NP_008825.4:p.Cys197Terfs
  • NC_000001.10:g.171077326_171077327delTG
Links:
dbSNP: rs3832024
NCBI 1000 Genomes Browser:
rs3832024
Molecular consequence:
  • NM_001002294.2:c.591_592delTG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Trimethylaminuria (TMAU)
Synonyms:
FISH-ODOR SYNDROME
Identifiers:
MedGen: C0342739; OMIM: 602079

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267323Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Pathogenic
(Mar 18, 2016)
germlinereference population

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population.

Yamazaki H, Fujita H, Gunji T, Zhang J, Kamataki T, Cashman JR, Shimizu M.

Mol Genet Metab. 2007 Jan;90(1):58-63. Epub 2006 Sep 25.

PubMed [citation]
PMID:
16996766
See all PubMed Citations (3)

Details of each submission

From Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267323.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 25, 2017

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