NM_004553.6(NDUFS6):c.302_303del (p.Ile101fs) AND Mitochondrial complex 1 deficiency, nuclear type 9
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003471400.1
Allele description [Variation Report for NM_004553.6(NDUFS6):c.302_303del (p.Ile101fs)]
NM_004553.6(NDUFS6):c.302_303del (p.Ile101fs)
Condition(s)
-
transmembrane protein 87A isoform 1 precursor [Homo sapiens]
transmembrane protein 87A isoform 1 precursor [Homo sapiens]gi|31377765|ref|NP_056312.2|Protein
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023