NM_025207.4(FLAD1):c.1588C>T (p.Arg530Cys) AND Glutaric aciduria, type 2

Clinical significance:Pathogenic (Last evaluated: Mar 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000223948.1

Allele description [Variation Report for NM_025207.4(FLAD1):c.1588C>T (p.Arg530Cys)]

NM_025207.4(FLAD1):c.1588C>T (p.Arg530Cys)

Gene:
FLAD1:flavin adenine dinucleotide synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_025207.4(FLAD1):c.1588C>T (p.Arg530Cys)
HGVS:
  • NC_000001.11:g.154992746C>T
  • NG_042310.1:g.14453C>T
  • NM_025207.4:c.1588C>T
  • NP_079483.3:p.Arg530Cys
  • NC_000001.10:g.154965222C>T
  • Q8NFF5:p.Arg530Cys
Protein change:
R530C; ARG530CYS
Links:
UniProtKB: Q8NFF5#VAR_077070; OMIM: 610595.0003; dbSNP: rs771466122
NCBI 1000 Genomes Browser:
rs771466122
Molecular consequence:
  • NM_025207.4:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000266357Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus Universitycriteria provided, single submitter
Pathogenic
(Mar 14, 2016)
inheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes22not providednot providedyesresearch

Citations

PubMed

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, et al.

Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.

PubMed [citation]
PMID:
27259049
PMCID:
PMC4908180

Details of each submission

From Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University, SCV000266357.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided2not provided

Last Updated: Apr 17, 2019

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