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Variant (rsID / SNP)

rs121909641

FGFR1

rs121909641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR1. Location: chromosome 8, position 38,277,238. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FGFR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:38277238
Cytoband
8p11.23
HGVS
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)
Allele change
Missense_P275L

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 2 with anosmia|Hypogonadotropic hypogonadism 7 with or without anosmia|7 conditions

Public references

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