NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu) AND Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000288052.5
Allele description [Variation Report for NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu)]
NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu)
Condition(s)
- Name:
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- Synonyms:
- Nuclear-Encoded ATPase Deficiency, ATPAF2-Related; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1; MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE
- Identifiers:
- MONDO: MONDO:0011421; MedGen: C3276276; Orphanet: 254913; OMIM: 604273
-
3050439[uid] (1)
Taxonomy
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Last Updated: Apr 9, 2023