NM_000527.5(LDLR):c.557del (p.Gly186fs) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002518479.3
Allele description [Variation Report for NM_000527.5(LDLR):c.557del (p.Gly186fs)]
NM_000527.5(LDLR):c.557del (p.Gly186fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024