NM_000527.5(LDLR):c.1450A>G (p.Ile484Val) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002037595.4
Allele description [Variation Report for NM_000527.5(LDLR):c.1450A>G (p.Ile484Val)]
NM_000527.5(LDLR):c.1450A>G (p.Ile484Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024