NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) AND COL1A1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 29, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004552984.2
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:
- COL1A1-related disorder
- Synonyms:
- COL1A1-related disease; COL1A1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 8, 2024