Variant (rsID / SNP)

rs121909627

rs121909627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR1. Location: chromosome 8, position 38,282,208. Clinical significance in the table: Pathogenic.

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Reference-table entries

FGFR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:38282208
Cytoband: 8p11.23
HGVS: NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)
Allele change: Missense_P161R

Associated conditions / phenotypes

Pfeiffer syndrome|Jackson-Weiss syndrome|Pfeiffer syndrome|Hypogonadotropic hypogonadism 2 with or without anosmia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.