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NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jan 1, 1996
Accession:
VCV000001628.1
Variation ID:
1628
Description:
single nucleotide variant
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NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)

Allele ID
16667
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7223199 (GRCh38) GRCh38 UCSC
17: 7126518 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7126518A>C
NC_000017.11:g.7223199A>C
NM_000018.4:c.1144A>C NP_000009.1:p.Lys382Gln missense
... more HGVS
Protein change
K382Q
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA251906
UniProtKB: P49748#VAR_000352
OMIM: 609575.0008
dbSNP: rs118204015
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 1, 1996 RCV000001695.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADVL - - GRCh38
GRCh37
466 516

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 1996)
no assertion criteria provided
Method: literature only
VLCAD DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000021851.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Souri M American journal of human genetics 1996 PMID: 8554073

Record last updated Oct 27, 2019