NM_000018.3(ACADVL):c.637G>C (p.Ala213Pro) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 26, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000152737.4

Allele description [Variation Report for NM_000018.3(ACADVL):c.637G>C (p.Ala213Pro)]

NM_000018.3(ACADVL):c.637G>C (p.Ala213Pro)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.3(ACADVL):c.637G>C (p.Ala213Pro)
HGVS:
  • NC_000017.11:g.7221966G>C
  • NG_007975.1:g.7133G>C
  • NM_000018.3:c.637G>C
  • NP_000009.1:p.Ala213Pro
  • NC_000017.10:g.7125285G>C
  • P49748:p.Ala213Pro
Protein change:
A213P
Links:
UniProtKB: P49748#VAR_010101; dbSNP: rs140629318
NCBI 1000 Genomes Browser:
rs140629318
Molecular consequence:
  • NM_000018.3:c.637G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000202124EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jun 26, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000202124.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Mar 30, 2019

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