NM_004453.3(ETFDH):c.1823delG (p.Gly608Valfs) AND Glutaric aciduria, type 2

Clinical significance:Pathogenic (Last evaluated: Oct 21, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000174536.1

Allele description [Variation Report for NM_004453.3(ETFDH):c.1823delG (p.Gly608Valfs)]

NM_004453.3(ETFDH):c.1823delG (p.Gly608Valfs)

Gene:
ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004453.3(ETFDH):c.1823delG (p.Gly608Valfs)
HGVS:
  • NC_000004.12:g.158708496delG
  • NM_004453.3:c.1823delG
  • NP_004444.2:p.Gly608Valfs
  • NC_000004.11:g.159629648delG
  • NM_004453.2:c.1823delG
Links:
dbSNP: rs398124153
NCBI 1000 Genomes Browser:
rs398124153
Molecular consequence:
  • NM_004453.3:c.1823delG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Glutaric aciduria, type 2 (MADD)
Synonyms:
GA II; GLUTARIC ACIDURIA II; Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Identifiers:
MedGen: C0268596; Orphanet: 26791; OMIM: 231680

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000225851EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Oct 21, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000225851.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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