NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys) AND Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2010
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000023508.6
Allele description [Variation Report for NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)]
NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)
Condition(s)
-
CARASIL syndrome
CARASIL syndromeMedGen
-
C1838577[conceptid] (1)
MedGen
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Uncultured deep-sea autotrophic bacterium SBII-3 cbbM gene for ribulose-1,5-bisp...
Uncultured deep-sea autotrophic bacterium SBII-3 cbbM gene for ribulose-1,5-bisphosphate carboxylase/oxygenase form II large subunit, partial cdsgi|7592849|dbj|AB040506.1|Nucleotide
-
Renal tubulopathy-encephalopathy-liver failure syndrome
Renal tubulopathy-encephalopathy-liver failure syndromeMedGen
-
Joubert syndrome 22
Joubert syndrome 22MedGen
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See more...Assertion and evidence details
Last Updated: May 13, 2023