NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) AND Connective tissue disorder
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000659523.11
Allele description [Variation Report for NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)]
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
Assertion and evidence details
Last Updated: Oct 20, 2024