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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- See Evidence submitted by expert panel for details.
Variant: NM_000018.4(ACADVL):c.552del (p.Ile184fs)
CA915949503
650581 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: addf7e6b-b165-4167-ab71-eb43108fe949
HGVS expressions
NM_000018.4:c.552del
NM_000018.4(ACADVL):c.552del (p.Ile184fs)
NC_000017.11:g.7221612del
CM000679.2:g.7221612del
NC_000017.10:g.7124931del
CM000679.1:g.7124931del
NC_000017.9:g.7065655del
NG_007975.1:g.6779del
NG_008391.2:g.3439del
ENST00000356839.10:c.552del
ENST00000322910.9:c.*507del
ENST00000350303.9:c.486del
ENST00000356839.9:c.552del
ENST00000543245.6:c.621del
ENST00000577191.5:n.629del
ENST00000577433.5:n.760del
ENST00000577857.5:n.368del
ENST00000579286.5:n.733del
ENST00000579886.2:c.390del
ENST00000580365.1:n.283del
ENST00000581378.5:n.270del
ENST00000581562.5:n.525-340del
ENST00000582166.1:n.533del
ENST00000583312.5:c.552del
ENST00000583760.1:n.334del
NM_000018.3:c.552del
NM_001033859.2:c.486del
NM_001270447.1:c.621del
NM_001270448.1:c.324del
NM_001033859.3:c.486del
NM_001270447.2:c.621del
NM_001270448.2:c.324del
Evidence submitted by expert panel
Approved on: 2022-03-14
Published on: 2022-03-14
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