Variant (rsID / SNP)

rs150748779

rs150748779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FASN. Location: chromosome 17, position 80,039,930. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FASNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:80039930
Cytoband: 17q25.3
HGVS: NM_004104.5(FASN):c.6118G>T (p.Ala2040Ser)
Allele change: Missense_A2040S

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.