NM_000016.6(ACADM):c.973dup (p.Glu325fs) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001035228.7
Allele description [Variation Report for NM_000016.6(ACADM):c.973dup (p.Glu325fs)]
NM_000016.6(ACADM):c.973dup (p.Glu325fs)
Condition(s)
-
bl18b06.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
bl18b06.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone PBX0018B06 5', mRNA sequencegi|7391308|gnl|dbEST|4070753|gb|AW6 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024