NM_000142.5(FGFR3):c.1182G>T (p.Thr394=) AND Connective tissue disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002278731.3
Allele description [Variation Report for NM_000142.5(FGFR3):c.1182G>T (p.Thr394=)]
NM_000142.5(FGFR3):c.1182G>T (p.Thr394=)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
Assertion and evidence details
Last Updated: Oct 13, 2024