NM_133173.3(APBB3):c.746A>C (p.Gln249Pro) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004417538.1
Allele description [Variation Report for NM_133173.3(APBB3):c.746A>C (p.Gln249Pro)]
NM_133173.3(APBB3):c.746A>C (p.Gln249Pro)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: May 7, 2024