NM_174936.4(PCSK9):c.2005G>A (p.Glu669Lys) AND Hypobetalipoproteinemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000310176.6
Allele description [Variation Report for NM_174936.4(PCSK9):c.2005G>A (p.Glu669Lys)]
NM_174936.4(PCSK9):c.2005G>A (p.Glu669Lys)
Condition(s)
- Name:
- Hypobetalipoproteinemia
- Identifiers:
- MONDO: MONDO:0017774; MedGen: C0020597
Assertion and evidence details
Last Updated: May 7, 2024