NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) AND Connective tissue disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000680486.9
Allele description [Variation Report for NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)]
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
Assertion and evidence details
Last Updated: Apr 15, 2024