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.1405C>T (p.Arg469Trp)
CA341519
21017 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 761db2cd-44a8-4dbe-8084-fd08c20675c1
Approved on: 2022-10-12
Published on: 2022-10-12
HGVS expressions
NM_000018.4:c.1405C>T
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
NC_000017.11:g.7224040C>T
CM000679.2:g.7224040C>T
NC_000017.10:g.7127359C>T
CM000679.1:g.7127359C>T
NC_000017.9:g.7068083C>T
NG_007975.1:g.9207C>T
NG_008391.2:g.1011G>A
NG_033038.1:g.15505G>A
ENST00000356839.10:c.1405C>T
ENST00000322910.9:c.*1360C>T
ENST00000350303.9:c.1339C>T
ENST00000356839.9:c.1405C>T
ENST00000542255.6:n.263C>T
ENST00000543245.6:c.1474C>T
ENST00000578711.1:n.536C>T
ENST00000579425.5:n.521C>T
ENST00000579546.1:n.242C>T
ENST00000579894.5:n.116C>T
ENST00000583074.5:n.124C>T
ENST00000583850.5:n.180C>T
ENST00000583858.5:n.434C>T
ENST00000585203.6:n.596C>T
NM_000018.3:c.1405C>T
NM_001033859.2:c.1339C>T
NM_001270447.1:c.1474C>T
NM_001270448.1:c.1177C>T
NM_001033859.3:c.1339C>T
NM_001270447.2:c.1474C>T
NM_001270448.2:c.1177C>T
Evidence submitted by expert panel
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