NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) AND Crouzon syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000324015.6
Allele description [Variation Report for NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)]
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)
Condition(s)
- Name:
- Crouzon syndrome
- Synonyms:
- CRANIOFACIAL DYSOSTOSIS, TYPE I; Crouzon craniofacial dysostosis; Crouzon disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007405; MeSH: D003394; MedGen: C0010273; Orphanet: 207; OMIM: 123500; Human Phenotype Ontology: HP:0004439
Assertion and evidence details
Last Updated: May 12, 2024