NM_000138.5(FBN1):c.2031T>A (p.Ala677=) AND Ectopia lentis 1, isolated, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001120100.4
Allele description [Variation Report for NM_000138.5(FBN1):c.2031T>A (p.Ala677=)]
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024