NM_004453.3(ETFDH):c.380T>A (p.Leu127His) AND Glutaric acidemia IIC

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012810.24

Allele description [Variation Report for NM_004453.3(ETFDH):c.380T>A (p.Leu127His)]

NM_004453.3(ETFDH):c.380T>A (p.Leu127His)

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.380T>A (p.Leu127His)
HGVS:
  • NC_000004.12:g.158682399T>A
  • NG_007078.2:g.15058T>A
  • NM_004453.3:c.380T>A
  • NP_004444.2:p.Leu127His
  • NC_000004.11:g.159603551T>A
  • NM_004453.2:c.380T>A
  • Q16134:p.Leu127His
Protein change:
L127H; LEU127HIS
Links:
UniProtKB: Q16134#VAR_075444; OMIM: 231675.0005; dbSNP: rs121964956
NCBI 1000 Genomes Browser:
rs121964956
Molecular consequence:
  • NM_004453.3:c.380T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glutaric acidemia IIC (GA2C)
Synonyms:
ETFDH deficiency
Identifiers:
MedGen: C3278156

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033050OMIMno assertion criteria providedPathogenic
(Mar 1, 2009)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Liang WC, Ohkuma A, Hayashi YK, López LC, Hirano M, Nonaka I, Noguchi S, Chen LH, Jong YJ, Nishino I.

Neuromuscul Disord. 2009 Mar;19(3):212-6. doi: 10.1016/j.nmd.2009.01.008. Epub 2009 Feb 26.

PubMed [citation]
PMID:
19249206

Details of each submission

From OMIM, SCV000033050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See 231675.0003 and Liang et al. (2009).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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