Variant (rsID / SNP)
rs12946178
rs12946178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FASN. Location: chromosome 17, position 80,046,994. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
FASNBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:80046994
- Cytoband
- 17q25.3
- HGVS
- NM_004104.5(FASN):c.2155G>A (p.Glu719Lys)
- Allele change
- Missense_E719K
Associated conditions / phenotypes
Epileptic encephalopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.