Variant (rsID / SNP)

rs886039903

rs886039903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGF12. Location: chromosome 3, position 192,053,223. Clinical significance in the table: Pathogenic.

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Reference-table entries

FGF12Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:192053223
Cytoband: 3q28
HGVS: NM_004113.6(FGF12):c.155G>A (p.Arg52His)
Allele change: Missense_R114H

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 47|Early onset epileptic encephalopathy

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.