NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) AND Ectopia lentis 1, isolated, autosomal dominant
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001121324.11
Allele description [Variation Report for NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)]
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
Condition(s)
Assertion and evidence details
Last Updated: May 19, 2024