NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) AND Connective tissue disorder
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jul 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000659344.5
Allele description [Variation Report for NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)]
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
Assertion and evidence details
Last Updated: Oct 20, 2024