NM_001103.4(ACTN2):c.702C>T (p.Ile234=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003085288.2
Allele description [Variation Report for NM_001103.4(ACTN2):c.702C>T (p.Ile234=)]
NM_001103.4(ACTN2):c.702C>T (p.Ile234=)
Condition(s)
-
RecName: Full=Tektin-1
RecName: Full=Tektin-1gi|25009461|sp|Q969V4.1|TEKT1_HUMANProtein
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Vollenhovia emeryi]
cytochrome c oxidase subunit I, partial (mitochondrion) [Vollenhovia emeryi]gi|574608994|gb|AHG50547.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024