NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002408766.2
Allele description [Variation Report for NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)]
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Sep 29, 2024