NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) AND Familial hypercholesterolemia
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001377885.9
Allele description [Variation Report for NM_000527.5(LDLR):c.1235T>C (p.Met412Thr)]
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024