NM_000527.5(LDLR):c.2061dup (p.Asn688fs) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000781503.9
Allele description [Variation Report for NM_000527.5(LDLR):c.2061dup (p.Asn688fs)]
NM_000527.5(LDLR):c.2061dup (p.Asn688fs)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024