NM_001100.4(ACTA1):c.867C>T (p.Ile289=) AND ACTA1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003947591.2
Allele description [Variation Report for NM_001100.4(ACTA1):c.867C>T (p.Ile289=)]
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)
Condition(s)
- Name:
- ACTA1-related disorder
- Synonyms:
- ACTA1-related condition
- Identifiers:
-
Homo sapiens F-box and leucine rich repeat protein 2 (FBXL2), transcript variant...
Homo sapiens F-box and leucine rich repeat protein 2 (FBXL2), transcript variant 1, mRNAgi|284447307|ref|NM_012157.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 20, 2024