Variant (rsID / SNP)

rs121909639

rs121909639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR1. Location: chromosome 8, position 38,273,417. 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: 8:38273417
Cytoband: 8p11.23
HGVS: NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)
Allele change: Nonsense_R516X

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 2 with anosmia|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.