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NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) AND Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 26, 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:
RCV000169366.1

Allele description

NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)

Gene:
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.703C>T (p.Arg235Trp)
HGVS:
  • NC_000002.12:g.26215149G>A
  • NG_007121.1:g.34472C>T
  • NM_000182.5:c.703C>TMANE SELECT
  • NP_000173.2:p.Arg235Trp
  • LRG_747t1:c.703C>T
  • LRG_747p1:p.Arg235Trp
  • NC_000002.11:g.26438018G>A
  • NM_000182.4:c.703C>T
Protein change:
R235W
Links:
dbSNP: rs786204607
NCBI 1000 Genomes Browser:
rs786204607
Molecular consequence:
  • NM_000182.5:c.703C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Identifiers:
MONDO: MONDO:0012173; MedGen: C3711645; Orphanet: 5; OMIM: 609016

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000220741Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Sep 26, 2014) 		unknownliterature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.

Scheuerman O, Wanders RJ, Waterham HR, Dubnov-Raz G, Garty BZ.

Pediatr Neurol. 2009 Jun;40(6):465-7. doi: 10.1016/j.pediatrneurol.2008.12.017.

PubMed [citation]
PMID:
19433283

Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

Saini-Chohan HK, Mitchell RW, Vaz FM, Zelinski T, Hatch GM.

J Lipid Res. 2012 Jan;53(1):4-27. doi: 10.1194/jlr.R012120. Epub 2011 Nov 7. Review.

PubMed [citation]
PMID:
22065858
PMCID:
PMC3243479
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000220741.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 14, 2021