NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) AND Familial scaphocephaly syndrome, McGillivray type
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2005
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000014221.27
Allele description [Variation Report for NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)]
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)
Condition(s)
Assertion and evidence details
Last Updated: Jul 15, 2024