NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
SNV Germline |
Chr2:26195184 |
Pathogenic |
LCHAD deficiency with maternal acute fatty liver of pregnancy Mitochondrial trifunctional protein deficiency Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Condition: not provided Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Mitochondrial trifunctional protein deficiency Inborn genetic diseases HADHA-related disorder not specified |
Criteria Provided Multiple Submitters No Conflicts |
CA119870 |
rs_137852769 |
26 SubmittersRCV000009267RCV000009266RCV000174836RCV000185933RCV000535911RCV000624767RCV000778608RCV001001910 |