C101F (p.Cys101Phe) variant of FGFR1 (P11362)
C101F (p.Cys101Phe) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome. The record also includes published literature and structural context.
C101F (p.Cys101Phe) variant details
- p.Cys101Phe
- rs2537260821
- ClinGen CA370736242
- ClinVar RCV003037292
- UniProt VAR 030971
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- ClinVar: Pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in… (PMID 17154279)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)