NM_000018.3(ACADVL):c.1504C>G (p.Leu502Val) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jul 6, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000723372.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.1504C>G (p.Leu502Val)]

NM_000018.3(ACADVL):c.1504C>G (p.Leu502Val)

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.1504C>G (p.Leu502Val)
HGVS:
  • NC_000017.11:g.7224215C>G
  • NG_007975.1:g.9382C>G
  • NM_000018.3:c.1504C>G
  • NP_000009.1:p.Leu502Val
  • NC_000017.10:g.7127534C>G
Protein change:
L502V
Links:
dbSNP: rs779901247
NCBI 1000 Genomes Browser:
rs779901247
Molecular consequence:
  • NM_000018.3:c.1504C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000330909EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Jul 6, 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, SCV000330909.4

#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

Support Center