NM_174936.4(PCSK9):c.1781C>T (p.Ala594Val) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001177986.5
Allele description [Variation Report for NM_174936.4(PCSK9):c.1781C>T (p.Ala594Val)]
NM_174936.4(PCSK9):c.1781C>T (p.Ala594Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024