NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) AND not provided
- Germline classification:
- Pathogenic (7 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000578926.27
Allele description
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: May 26, 2024