NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002223753.13
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)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Oct 26, 2024