Variant (rsID / SNP)
rs2229426
rs2229426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FASN. Location: chromosome 17, position 80,041,398. Clinical significance in the table: Benign.
Reference-table entries
FASNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:80041398
- Cytoband
- 17q25.3
- HGVS
- NM_004104.5(FASN):c.5336C>T (p.Pro1779Leu)
- Allele change
- Missense_P1779L
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.