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.308_309del (p.Lys103fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA16041859
371068 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: c9b07233-8c58-48b7-b8c9-d55e9e51d8ca
Approved on: 2022-05-10
Published on: 2022-05-10
HGVS expressions
NM_000018.4:c.308_309del
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)
NC_000017.11:g.7220796_7220797del
CM000679.2:g.7220796_7220797del
NC_000017.10:g.7124115_7124116del
CM000679.1:g.7124115_7124116del
NC_000017.9:g.7064839_7064840del
NG_007975.1:g.5963_5964del
NG_008391.2:g.4255_4256del
ENST00000356839.10:c.308_309del
ENST00000322910.9:c.*263_*264del
ENST00000350303.9:c.242_243del
ENST00000356839.9:c.308_309del
ENST00000543245.6:c.377_378del
ENST00000577191.5:n.385_386del
ENST00000577433.5:n.516_517del
ENST00000577857.5:n.259_260del
ENST00000579286.5:n.489_490del
ENST00000579886.2:c.202-149_202-148del
ENST00000580365.1:n.39_40del
ENST00000581378.5:n.7_8del
ENST00000581562.5:n.355_356del
ENST00000582056.5:n.398_399del
ENST00000582166.1:n.196_197del
ENST00000582356.5:n.507_508del
ENST00000583312.5:c.308_309del
ENST00000584103.5:c.308_309del
NM_000018.3:c.308_309del
NM_001033859.2:c.242_243del
NM_001270447.1:c.377_378del
NM_001270448.1:c.80_81del
NM_001033859.3:c.242_243del
NM_001270447.2:c.377_378del
NM_001270448.2:c.80_81del
More
Evidence submitted by expert panel
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