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.1193_1194insGCA (p.Tyr398Ter)
CA1139665148
932851 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 883b111b-4053-404c-8658-5f95316498fa
HGVS expressions
NM_000018.4:c.1193_1194insGCA
NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter)
NC_000017.11:g.7223654_7223655insGCA
CM000679.2:g.7223654_7223655insGCA
NC_000017.10:g.7126973_7126974insGCA
CM000679.1:g.7126973_7126974insGCA
NC_000017.9:g.7067697_7067698insGCA
NG_007975.1:g.8821_8822insGCA
NG_008391.2:g.1397_1398insGCT
NG_033038.1:g.15891_15892insGCT
ENST00000356839.10:c.1193_1194insGCA
ENST00000322910.9:c.*1148_*1149insGCA
ENST00000350303.9:c.1127_1128insGCA
ENST00000356839.9:c.1193_1194insGCA
ENST00000542255.6:n.51_52insGCA
ENST00000543245.6:c.1262_1263insGCA
ENST00000578579.2:n.364_365insGCA
ENST00000578711.1:n.150_151insGCA
ENST00000578824.5:n.609_610insGCA
ENST00000579425.5:n.217_218insGCA
ENST00000579546.1:n.30_31insGCA
ENST00000583858.5:n.222_223insGCA
ENST00000585203.6:n.401_402insGCA
NM_000018.3:c.1193_1194insGCA
NM_001033859.2:c.1127_1128insGCA
NM_001270447.1:c.1262_1263insGCA
NM_001270448.1:c.965_966insGCA
NM_001033859.3:c.1127_1128insGCA
NM_001270447.2:c.1262_1263insGCA
NM_001270448.2:c.965_966insGCA
Evidence submitted by expert panel
Approved on: 2022-12-14
Published on: 2022-12-14
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