NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg) AND Abnormality of connective tissue
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814198.8
Allele description [Variation Report for NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)]
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)
Condition(s)
- Name:
- Abnormality of connective tissue
- Identifiers:
- MedGen: C4025596; Human Phenotype Ontology: HP:0003549
Assertion and evidence details
Last Updated: Oct 8, 2024