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.1039del (p.Ala347fs)
CA1139665145
932848 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: fc2ee444-91dd-4d44-9da2-235a16a4ffb6
Approved on: 2022-09-22
Published on: 2022-09-22
HGVS expressions
NM_000018.4:c.1039del
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)
NC_000017.11:g.7222827del
CM000679.2:g.7222827del
NC_000017.10:g.7126146del
CM000679.1:g.7126146del
NC_000017.9:g.7066870del
NG_007975.1:g.7994del
NG_008391.2:g.2225del
ENST00000356839.10:c.1039del
ENST00000322910.9:c.*994del
ENST00000350303.9:c.973del
ENST00000356839.9:c.1039del
ENST00000543245.6:c.1108del
ENST00000578824.5:n.188del
ENST00000582379.1:n.423del
ENST00000583858.5:n.68del
NM_000018.3:c.1039del
NM_001033859.2:c.973del
NM_001270447.1:c.1108del
NM_001270448.1:c.811del
NM_001033859.3:c.973del
NM_001270447.2:c.1108del
NM_001270448.2:c.811del
Evidence submitted by expert panel
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