NM_000016.6(ACADM):c.584G>A (p.Gly195Glu) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003034578.3
Allele description [Variation Report for NM_000016.6(ACADM):c.584G>A (p.Gly195Glu)]
NM_000016.6(ACADM):c.584G>A (p.Gly195Glu)
Condition(s)
-
Homo sapiens mutS homolog 5 (MSH5), transcript variant 2, mRNA
Homo sapiens mutS homolog 5 (MSH5), transcript variant 2, mRNAgi|1890333321|ref|NM_172165.4|Nucleotide
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Last Updated: Sep 29, 2024