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Gene entry

FGFR1

fibroblast growth factor receptor 1

Chromosome
8
Cytoband
8p11.23
Variants (rsID)
24

FGFR1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p11.23). Its official name is “fibroblast growth factor receptor 1”. The reference table lists 24 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs4647904Benignsingle nucleotide variantOsteoglophonic dysplasia|Craniosynostosis syndrome|Trigonocephaly 1|Hypogonadotropic hypogonadism 2 with or without anosmia|Hypogonadotropic hypogonadism 2 with or without anosmia|Pfeiffer syndrome
  • rs121909641Conflicting interpretationssingle nucleotide variantHypogonadotropic hypogonadism 2 with anosmia|Hypogonadotropic hypogonadism 7 with or without anosmia|7 conditions
  • rs200776757Conflicting interpretationssingle nucleotide variantOsteoglophonic dysplasia|Trigonocephaly 1|Craniosynostosis syndrome|Craniosynostosis, nonspecific|Hypogonadotropic hypogonadism 2 with or without anosmia|Hypogonadotropic hypogonadism 2 with or without anosmia|Pfeiffer syndrome|Pfeiffer syndrome
  • rs186746130Likely benignsingle nucleotide variantCraniosynostosis syndrome
  • rs121909627Pathogenicsingle nucleotide variantPfeiffer syndrome|Jackson-Weiss syndrome|Pfeiffer syndrome|Hypogonadotropic hypogonadism 2 with or without anosmia
  • rs121909628Pathogenicsingle nucleotide variantHypogonadotropic hypogonadism 2 with or without anosmia|Hypogonadotropic hypogonadism 7 with or without anosmia|Delayed puberty|Hypogonadotropic hypogonadism
  • rs121909639Pathogenicsingle nucleotide variantHypogonadotropic hypogonadism 2 with anosmia|Hypogonadotropic hypogonadism 2 with or without anosmia
  • rs886037634Pathogenicsingle nucleotide variantHypogonadotropic hypogonadism 2 with anosmia|Hypogonadotropic hypogonadism 2 with or without anosmia
  • rs121909637Uncertain significancesingle nucleotide variantHypogonadotropic hypogonadism 2 with or without anosmia|Pfeiffer syndrome|Hypogonadotropic hypogonadism 2 with or without anosmia

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.