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.1368dup (p.Ile457fs)
CA624860703
661308 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: d70ed59e-acff-4edf-bfac-6197cb1fd486
HGVS expressions
NM_000018.4:c.1368dup
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
NC_000017.11:g.7224003dup
CM000679.2:g.7224003dup
NC_000017.10:g.7127322dup
CM000679.1:g.7127322dup
NC_000017.9:g.7068046dup
NG_007975.1:g.9170dup
NG_008391.2:g.1048dup
NG_033038.1:g.15542dup
ENST00000356839.10:c.1368dup
ENST00000322910.9:c.*1323dup
ENST00000350303.9:c.1302dup
ENST00000356839.9:c.1368dup
ENST00000542255.6:n.226dup
ENST00000543245.6:c.1437dup
ENST00000578711.1:n.499dup
ENST00000579425.5:n.484dup
ENST00000579546.1:n.205dup
ENST00000579894.5:n.79dup
ENST00000583074.5:n.87dup
ENST00000583850.5:n.143dup
ENST00000583858.5:n.397dup
ENST00000585203.6:n.559dup
NM_000018.3:c.1368dup
NM_001033859.2:c.1302dup
NM_001270447.1:c.1437dup
NM_001270448.1:c.1140dup
NM_001033859.3:c.1302dup
NM_001270447.2:c.1437dup
NM_001270448.2:c.1140dup
Evidence submitted by expert panel
Approved on: 2022-12-14
Published on: 2022-12-14
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