NM_000108.5(DLD):c.860G>A (p.Gly287Glu) AND Pyruvate dehydrogenase E3 deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000277653.6
Allele description [Variation Report for NM_000108.5(DLD):c.860G>A (p.Gly287Glu)]
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)
Condition(s)
- Name:
- Pyruvate dehydrogenase E3 deficiency (DLDD)
- Synonyms:
- MAPLE SYRUP URINE DISEASE, TYPE III; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; Maple syrup urine disease, type 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009529; MedGen: C5574660; Orphanet: 2394; Orphanet: 765; OMIM: 246900
-
MAG TPA_asm: uncultured Clostridia bacterium isolate ERR1190810_bin.88_CONCOCT_v...
MAG TPA_asm: uncultured Clostridia bacterium isolate ERR1190810_bin.88_CONCOCT_v1.1_MAG, whole genome shotgun sequencing projectgi|2423851126|tpe|CALKPW000000000.1 PW010000000Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024