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Variant (rsID / SNP)

rs121909637

FGFR1

rs121909637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR1. Location: chromosome 8, position 38,275,767. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FGFR1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
8:38275767
Cytoband
8p11.23
HGVS
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu)
Allele change
Missense_R377L

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 2 with or without anosmia|Pfeiffer syndrome|Hypogonadotropic hypogonadism 2 with or without anosmia

Public references

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