NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) AND Craniosynostosis, nonsyndromic unicoronal
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2000
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000014212.19
Allele description [Variation Report for NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)]
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)
Condition(s)
- Name:
- Craniosynostosis, nonsyndromic unicoronal
- Identifiers:
- MedGen: C4016346
Assertion and evidence details
Last Updated: Sep 29, 2024