The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No CSPEC related information was provided by the message!
- See Evidence submitted by expert panel for details.
Variant: NM_000018.4(ACADVL):c.642_643del (p.Phe214fs)
CA774742300
1073342 (ClinVar)
Gene: ACADVL
Condition: very long chain acyl-CoA dehydrogenase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 2b712c1a-a7fc-4ff4-8314-e2abd6f5a774
Approved on: 2022-12-14
Published on: 2022-12-15
HGVS expressions
NM_000018.4:c.642_643del
NM_000018.4(ACADVL):c.642_643del (p.Phe214fs)
NC_000017.11:g.7221971_7221972del
CM000679.2:g.7221971_7221972del
NC_000017.10:g.7125290_7125291del
CM000679.1:g.7125290_7125291del
NC_000017.9:g.7066014_7066015del
NG_007975.1:g.7138_7139del
NG_008391.2:g.3080_3081del
ENST00000356839.10:c.642_643del
ENST00000322910.9:c.*597_*598del
ENST00000350303.9:c.576_577del
ENST00000356839.9:c.642_643del
ENST00000543245.6:c.711_712del
ENST00000577191.5:n.719_720del
ENST00000577857.5:n.458_459del
ENST00000579286.5:n.823_824del
ENST00000580365.1:n.373_374del
ENST00000581378.5:n.360_361del
ENST00000581562.5:n.544_545del
ENST00000582379.1:n.26_27del
ENST00000583312.5:c.657_658del
ENST00000583760.1:n.424_425del
NM_000018.3:c.642_643del
NM_001033859.2:c.576_577del
NM_001270447.1:c.711_712del
NM_001270448.1:c.414_415del
NM_001033859.3:c.576_577del
NM_001270447.2:c.711_712del
NM_001270448.2:c.414_415del
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.