Variant (rsID / SNP)

rs80338894

rs80338894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAH. Location: chromosome 15, position 80,450,512. Clinical significance in the table: Pathogenic.

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Reference-table entries

FAHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:80450512
Cytoband: 15q25.1
HGVS: NM_000137.4(FAH):c.192G>T (p.Gln64His)
Allele change: Missense_Q64H

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.