S252F (p.Ser252Phe) variant of FGFR2 (P21802)
S252F (p.Ser252Phe) 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.
S252F (p.Ser252Phe) variant details
- p.Ser252Phe
- rs121918498
- ClinGen CA280180
- ClinVar RCV000014201
- UniProt VAR 004114
- Likely pathogenic
- Acrocephalosyndactyly type I
- Missense
- ClinVar: Likely pathogenic (Acrocephalosyndactyly type I)
- EBI: Pathogenic (in APRS)
- UniProt: Pathogenic (in APRS)
- Structural context available
- Cited in: Clinical variability in patients with Apert's syndrome. (PMID 10067911)
- Cited in: Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. (PMID 9002682)