NM_000088.4(COL1A1):c.3232G>A (p.Val1078Ile) AND COL1A1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004550591.1
Allele description [Variation Report for NM_000088.4(COL1A1):c.3232G>A (p.Val1078Ile)]
NM_000088.4(COL1A1):c.3232G>A (p.Val1078Ile)
Condition(s)
- Name:
- COL1A1-related disorder
- Synonyms:
- COL1A1-related disease; COL1A1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Jun 17, 2024