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Variant (rsID / SNP)

rs121909628

FGFR1

rs121909628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR1. Location: chromosome 8, position 38,272,410. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FGFR1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
8:38272410
Cytoband
8p11.23
HGVS
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)
Allele change
Nonsense_R529X

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 2 with or without anosmia|Hypogonadotropic hypogonadism 7 with or without anosmia|Delayed puberty|Hypogonadotropic hypogonadism

Public references

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