NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) AND CYP7B1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003894794.1
Allele description
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)
Condition(s)
- Name:
- CYP7B1-related disorder
- Synonyms:
- CYP7B1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024