NM_000138.5(FBN1):c.3800A>G (p.Asp1267Gly) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003479710.1
Allele description [Variation Report for NM_000138.5(FBN1):c.3800A>G (p.Asp1267Gly)]
NM_000138.5(FBN1):c.3800A>G (p.Asp1267Gly)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jan 6, 2024