NM_145246.5(FRA10AC1):c.679A>G (p.Ile227Val) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002767478.2
Allele description [Variation Report for NM_145246.5(FRA10AC1):c.679A>G (p.Ile227Val)]
NM_145246.5(FRA10AC1):c.679A>G (p.Ile227Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Chain M, ATP synthase subunit 9, mitochondrial
Chain M, ATP synthase subunit 9, mitochondrialgi|1377048214|pdb|6CP5|MProtein
-
Chain S, ATP synthase subunit 9, mitochondrial
Chain S, ATP synthase subunit 9, mitochondrialgi|1377048220|pdb|6CP5|SProtein
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See more...Assertion and evidence details
Last Updated: May 1, 2024