NM_000527.5(LDLR):c.2271del (p.Leu759fs) AND Cardiovascular phenotype
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002444848.3
Allele description [Variation Report for NM_000527.5(LDLR):c.2271del (p.Leu759fs)]
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Jun 23, 2024