NM_001353788.2(APBA2):c.229G>A (p.Val77Met) AND not specified
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002246958.2
Allele description [Variation Report for NM_001353788.2(APBA2):c.229G>A (p.Val77Met)]
NM_001353788.2(APBA2):c.229G>A (p.Val77Met)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 13, 2024