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Variant (rsID / SNP)

rs137852664

FGF8

rs137852664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGF8. Location: chromosome 10, position 103,530,135. 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
10:103530135
Cytoband
10q24.32
HGVS
NM_033163.5(FGF8):c.686C>T (p.Thr229Met)
Allele change
Missense_T229M

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 6 with or without anosmia|Holoprosencephaly 1

Public references

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