The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA287433650
812785 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 9092ac6d-ee1f-4776-967f-41c813d5ca66
Approved on: 2022-12-14
Published on: 2022-12-14
HGVS expressions
NM_000018.4:c.37C>T
NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)
NC_000017.11:g.7220021C>T
CM000679.2:g.7220021C>T
NC_000017.10:g.7123340C>T
CM000679.1:g.7123340C>T
NC_000017.9:g.7064064C>T
NG_007975.1:g.5188C>T
NG_008391.2:g.5030G>A
ENST00000356839.10:c.37C>T
ENST00000322910.9:c.37C>T
ENST00000350303.9:c.37C>T
ENST00000356839.9:c.37C>T
ENST00000543245.6:c.132-101C>T
ENST00000577191.5:n.114C>T
ENST00000577857.5:n.127C>T
ENST00000578269.5:n.144C>T
ENST00000578421.1:n.96C>T
ENST00000579286.5:n.144C>T
ENST00000579886.2:c.37C>T
ENST00000580263.5:n.127C>T
ENST00000581562.5:n.84C>T
ENST00000582056.5:n.127C>T
ENST00000582356.5:n.162C>T
ENST00000583312.5:c.37C>T
ENST00000584103.5:c.37C>T
NM_000018.3:c.37C>T
NM_001033859.2:c.37C>T
NM_001270447.1:c.132-101C>T
NM_001270448.1:c.-267C>T
NM_001365.3:c.-1172G>A
NM_001321074.1:c.-1172G>A
NM_001365.4:c.-1172G>A
NR_135527.1:n.30G>A
NM_001033859.3:c.37C>T
NM_001270447.2:c.132-101C>T
NM_001270448.2:c.-267C>T
More
Evidence submitted by expert panel
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