Variant (rsID / SNP)

rs80338899

rs80338899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAH. Location: chromosome 15, position 80,465,435. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FAHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:80465435
Cytoband: 15q25.1
HGVS: NM_000137.4(FAH):c.786G>A (p.Trp262Ter)
Allele change: Nonsense_W262X

Associated conditions / phenotypes

Tyrosinemia type I

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.