NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg) AND ACTB-related BAFopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001533050.1
Allele description [Variation Report for NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg)]
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg)
Condition(s)
- Name:
- ACTB-related BAFopathy
- Identifiers:
-
Lactiplantibacillus plantarum strain L125 scaffold82_size819, whole genome shotg...
Lactiplantibacillus plantarum strain L125 scaffold82_size819, whole genome shotgun sequencegi|2155441333|ref|NZ_JAIGOE01000007 gnl|WGS:NZ_JAIGOE01|scaffold82_size819Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023