Variant (rsID / SNP)

rs137852660

rs137852660 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGF8. Location: chromosome 10, position 103,534,966. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FGF8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:103534966
Cytoband: 10q24.32
HGVS: NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)
Allele change: Missense_P26L

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 6 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.