NM_004404.5(SEPTIN2):c.1048G>A (p.Gly350Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004453022.1
Allele description
NM_004404.5(SEPTIN2):c.1048G>A (p.Gly350Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform a [Homo sapien...
ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform a [Homo sapiens]gi|32967305|ref|NP_872282.1|Protein
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Last Updated: May 7, 2024