NM_000250.2(MPO):c.1769G>A (p.Arg590His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004264716.1
Allele description [Variation Report for NM_000250.2(MPO):c.1769G>A (p.Arg590His)]
NM_000250.2(MPO):c.1769G>A (p.Arg590His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 [Homo sapiens]
PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 [Homo sapiens]Gene ID:5160Gene
-
Gene Links for GEO Profiles (Select 85217330) (1)
Gene
-
Profile neighbors for GEO Profiles (Select 85215676) (199)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024