Y656H (p.Tyr656His) variant of FGFR2 (P21802)
Y656H (p.Tyr656His) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acrocephalosyndactyly type I. The record also includes published literature and structural context.
Y656H (p.Tyr656His) variant details
- p.Tyr656His
- rs2133835239
- ClinVar RCV006454927
- Ensembl rs2133835239
- Likely pathogenic
- Acrocephalosyndactyly type I
- Missense
- ClinVar: Likely pathogenic (Acrocephalosyndactyly type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Apert Syndrome. (PMID 31145570)