Variant (rsID / SNP)

rs199546508

rs199546508 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FASN. Location: chromosome 17, position 80,046,266. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FASNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:80046266
Cytoband: 17q25.3
HGVS: NM_004104.5(FASN):c.2593G>A (p.Asp865Asn)
Allele change: Missense_D865N

Associated conditions / phenotypes

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.