NM_000138.5(FBN1):c.2920dup (p.Arg974fs) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 7, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000624567.2
Allele description [Variation Report for NM_000138.5(FBN1):c.2920dup (p.Arg974fs)]
NM_000138.5(FBN1):c.2920dup (p.Arg974fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
Conserved Domain Links for Protein (Select 2462581334) (3)
Conserved Domains
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Last Updated: Jun 24, 2023