NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001730199.2
Allele description [Variation Report for NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)]
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Mar 5, 2024