NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) AND Sitosterolemia 2
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jun 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000005268.16
Allele description [Variation Report for NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)]
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024