NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) AND Stiff skin syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000358405.6
Allele description [Variation Report for NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)]
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024