NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001596936.1
Allele description
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Apr 15, 2024