NM_174936.4(PCSK9):c.914C>A (p.Ala305Glu) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003582145.1
Allele description [Variation Report for NM_174936.4(PCSK9):c.914C>A (p.Ala305Glu)]
NM_174936.4(PCSK9):c.914C>A (p.Ala305Glu)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024