NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 9, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000346298.4
Allele description [Variation Report for NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp)]
NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 1, 2023