NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Nov 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000411952.10
Allele description [Variation Report for NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)]
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)
Condition(s)
-
Oryza sativa Japonica Group homeobox-leucine zipper protein HOX6-like (LOC434764...
Oryza sativa Japonica Group homeobox-leucine zipper protein HOX6-like (LOC4347647), mRNAgi|2528607260|ref|NM_001422912.1|Nucleotide
-
PREDICTED: Biomphalaria glabrata polypeptide N-acetylgalactosaminyltransferase 1...
PREDICTED: Biomphalaria glabrata polypeptide N-acetylgalactosaminyltransferase 11-like (LOC106055667), transcript variant X6, mRNAgi|2502133480|ref|XM_056013186.1|Nucleotide
-
polypeptide N-acetylgalactosaminyltransferase 11-like [Biomphalaria glabrata]
polypeptide N-acetylgalactosaminyltransferase 11-like [Biomphalaria glabrata]gi|2502133479|ref|XP_055869160.1|Protein
-
PREDICTED: beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase...
PREDICTED: beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase [Balearica regulorum gibbericeps]gi|723569311|ref|XP_010304842.1|Protein
-
JGI_XZG27080.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7542748 5'...
JGI_XZG27080.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7542748 5', mRNA sequencegi|73908110|gnl|dbEST|31152256|gb|C 04.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024