NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) AND Short stature
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415460.10
Allele description [Variation Report for NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)]
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
Condition(s)
- Name:
- Short stature
- Identifiers:
- MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Assertion and evidence details
Last Updated: May 1, 2024