Variant (rsID / SNP)

rs144228661

rs144228661 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAH. Location: chromosome 15, position 80,465,364. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FAHLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:80465364
Cytoband: 15q25.1
HGVS: NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
Allele change: Missense_I239F

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.