NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) AND Acromicric dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001115602.4
Allele description [Variation Report for NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)]
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024