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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- No ClinVar Id was directly found from the curated document
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- See Evidence submitted by expert panel for details.
Variant: NM_001270448.2:c.415T>C
CA397723375
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 4f8bae2e-fb18-4cb8-9752-4ba96c4f9bb4
Approved on: 2023-11-13
Published on: 2023-11-13
HGVS expressions
NM_001270448.2:c.415T>C
NC_000017.11:g.7221972T>C
CM000679.2:g.7221972T>C
NC_000017.10:g.7125291T>C
CM000679.1:g.7125291T>C
NC_000017.9:g.7066015T>C
NG_007975.1:g.7139T>C
NG_008391.2:g.3079A>G
ENST00000356839.10:c.643T>C
ENST00000322910.9:c.*598T>C
ENST00000350303.9:c.577T>C
ENST00000356839.9:c.643T>C
ENST00000543245.6:c.712T>C
ENST00000577191.5:n.720T>C
ENST00000577857.5:n.459T>C
ENST00000579286.5:n.824T>C
ENST00000580365.1:n.374T>C
ENST00000581378.5:c.361T>C
ENST00000581562.5:n.545T>C
ENST00000582379.1:n.27T>C
ENST00000583312.5:c.658T>C
ENST00000583760.1:n.425T>C
NM_000018.3:c.643T>C
NM_001033859.2:c.577T>C
NM_001270447.1:c.712T>C
NM_001270448.1:c.415T>C
NM_000018.4:c.643T>C
NM_001033859.3:c.577T>C
NM_001270447.2:c.712T>C
Evidence submitted by expert panel
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