NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000181518.3
Allele description [Variation Report for NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)]
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024