NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002461187.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)]
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Nov 10, 2024