NM_022437.3(ABCG8):c.295C>T (p.Gln99Ter) AND ABCG8-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003410869.4
Allele description [Variation Report for NM_022437.3(ABCG8):c.295C>T (p.Gln99Ter)]
NM_022437.3(ABCG8):c.295C>T (p.Gln99Ter)
Condition(s)
- Name:
- ABCG8-related disorder
- Synonyms:
- ABCG8-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024