NM_000527.5(LDLR):c.1162C>A (p.His388Asn) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001189127.4
Allele description [Variation Report for NM_000527.5(LDLR):c.1162C>A (p.His388Asn)]
NM_000527.5(LDLR):c.1162C>A (p.His388Asn)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024