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.65C>A (p.Ser22Ter)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA233425
166638 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: a955db98-1e3b-463b-8b12-e2456a6ad0eb
Approved on: 2022-09-22
Published on: 2022-09-22
HGVS expressions
NM_000018.4:c.65C>A
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
NC_000017.11:g.7220124C>A
CM000679.2:g.7220124C>A
NC_000017.10:g.7123443C>A
CM000679.1:g.7123443C>A
NC_000017.9:g.7064167C>A
NG_007975.1:g.5291C>A
NG_008391.2:g.4927G>T
ENST00000356839.10:c.65C>A
ENST00000322910.9:c.*20C>A
ENST00000350303.9:c.65C>A
ENST00000356839.9:c.65C>A
ENST00000543245.6:c.134C>A
ENST00000577191.5:n.142C>A
ENST00000577857.5:n.155C>A
ENST00000578269.5:n.172C>A
ENST00000578421.1:n.199C>A
ENST00000579286.5:n.172C>A
ENST00000579886.2:c.65C>A
ENST00000580263.5:n.155C>A
ENST00000581562.5:n.112C>A
ENST00000582056.5:n.155C>A
ENST00000582356.5:n.190C>A
ENST00000583312.5:c.65C>A
ENST00000584103.5:c.65C>A
NM_000018.3:c.65C>A
NM_001033859.2:c.65C>A
NM_001270447.1:c.134C>A
NM_001270448.1:c.-164C>A
NM_001033859.3:c.65C>A
NM_001270447.2:c.134C>A
NM_001270448.2:c.-164C>A
More
Evidence submitted by expert panel
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