NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) AND Connective tissue disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000659507.8
Allele description [Variation Report for NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)]
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
Assertion and evidence details
Last Updated: Oct 26, 2024