NM_001014763.1(ETFB):c.278dupC (p.Pro94Thrfs) AND Glutaric aciduria, type 2

Clinical significance:Uncertain significance (Last evaluated: Jun 7, 2017)

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:
RCV000721998.1

Allele description [Variation Report for NM_001014763.1(ETFB):c.278dupC (p.Pro94Thrfs)]

NM_001014763.1(ETFB):c.278dupC (p.Pro94Thrfs)

Gene:
ETFB:electron transfer flavoprotein subunit beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_001014763.1(ETFB):c.278dupC (p.Pro94Thrfs)
HGVS:
  • NC_000019.10:g.51354361dupG
  • NG_007115.1:g.17058dup
  • NM_001014763.1:c.278dupC
  • NM_001985.2:c.58-53dupC
  • NP_001014763.1:p.Pro94Thrfs
  • NC_000019.9:g.51857614_51857615insG
  • NC_000019.9:g.51857615dupG
  • NM_001985.2:c.58-53_58-52insC
  • p.P94TfsX8
Links:
dbSNP: rs74357706
NCBI 1000 Genomes Browser:
rs74357706
Molecular consequence:
  • NM_001014763.1:c.278dupC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001985.2:c.58-53dupC - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000853160SingHealth Duke-NUS Institute of Precision Medicineno assertion criteria providedUncertain significance
(Jun 7, 2017)
germlinecuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedcuration

Details of each submission

From SingHealth Duke-NUS Institute of Precision Medicine, SCV000853160.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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