NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro) AND Glutaric aciduria, type 2

Clinical significance:Pathogenic (Last evaluated: Oct 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000578325.1

Allele description [Variation Report for NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro)]

NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro)

Gene:
ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro)
HGVS:
  • NC_000004.12:g.158703436T>C
  • NG_007078.2:g.36095T>C
  • NM_004453.3:c.1130T>C
  • NP_004444.2:p.Leu377Pro
  • NC_000004.11:g.159624588T>C
  • NM_004453.2:c.1130T>C
  • Q16134:p.Leu377Pro
Protein change:
L377P; LEU377PRO
Links:
UniProtKB: Q16134#VAR_075453; OMIM: 231675.0007; dbSNP: rs387907170
NCBI 1000 Genomes Browser:
rs387907170
Molecular consequence:
  • NM_004453.3:c.1130T>C - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000680215Institute of Human Genetics,Klinikum rechts der Isarcriteria provided, single submitter
Pathogenic
(Oct 24, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics,Klinikum rechts der Isar, SCV000680215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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