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NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 7, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000624767.10

Allele description [Variation Report for NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)]

NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)

Genes:
GAREM2:GRB2 associated regulator of MAPK1 subtype 2 [Gene - OMIM - HGNC]
HADHA:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
Other names:
p.E510Q:GAG>CAG
HGVS:
  • NC_000002.12:g.26195184C>G
  • NG_007121.1:g.54437G>C
  • NM_000182.5:c.1528G>CMANE SELECT
  • NP_000173.2:p.Glu510Gln
  • LRG_747t1:c.1528G>C
  • LRG_747p1:p.Glu510Gln
  • NC_000002.11:g.26418053C>G
  • NM_000182.4:c.1528G>C
  • P40939:p.Glu510Gln
Protein change:
E510Q; GLU510GLN
Links:
UniProtKB: P40939#VAR_002273; OMIM: 600890.0001; dbSNP: rs137852769
NCBI 1000 Genomes Browser:
rs137852769
Molecular consequence:
  • NM_000182.5:c.1528G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000740753Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Sep 7, 2014) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

De Biase I, Viau KS, Liu A, Yuzyuk T, Botto LD, Pasquali M, Longo N.

JIMD Rep. 2017;31:63-71. doi: 10.1007/8904_2016_558. Epub 2016 Apr 28.

PubMed [citation]
PMID:
27117294
PMCID:
PMC5388644

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.

IJlst L, Wanders RJ, Ushikubo S, Kamijo T, Hashimoto T.

Biochim Biophys Acta. 1994 Dec 8;1215(3):347-50.

PubMed [citation]
PMID:
7811722
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000740753.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024