NM_001370595.2(COA8):c.129A>C (p.Ser43=) AND Mitochondrial complex 4 deficiency, nuclear type 17
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487035.1
Allele description [Variation Report for NM_001370595.2(COA8):c.129A>C (p.Ser43=)]
NM_001370595.2(COA8):c.129A>C (p.Ser43=)
Condition(s)
-
Homo sapiens small nucleolar RNA, H/ACA box 38B (SNORA38B), small nucleolar RNA
Homo sapiens small nucleolar RNA, H/ACA box 38B (SNORA38B), small nucleolar RNAgi|194097433|ref|NR_003706.2|Nucleotide
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Last Updated: Oct 13, 2024