NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 19, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002365431.2
Allele description [Variation Report for NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu)]
NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Sep 29, 2024