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NM_000182.5(HADHA):c.1889G>A (p.Arg630His) AND Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001835902.1

Allele description [Variation Report for NM_000182.5(HADHA):c.1889G>A (p.Arg630His)]

NM_000182.5(HADHA):c.1889G>A (p.Arg630His)

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.1889G>A (p.Arg630His)
HGVS:
  • NC_000002.12:g.26192421C>T
  • NG_007121.1:g.57200G>A
  • NM_000182.5:c.1889G>AMANE SELECT
  • NP_000173.2:p.Arg630His
  • LRG_747t1:c.1889G>A
  • LRG_747p1:p.Arg630His
  • NC_000002.11:g.26415290C>T
Protein change:
R630H
Links:
dbSNP: rs150850348
NCBI 1000 Genomes Browser:
rs150850348
Molecular consequence:
  • NM_000182.5:c.1889G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Synonyms:
Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD 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
SCV002076496Natera, Inc.
no assertion criteria provided
Uncertain significance
(Dec 18, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002076496.1

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

Last Updated: Sep 29, 2024