Variant (rsID / SNP)

rs36122289

rs36122289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAH. Location: chromosome 15, position 80,452,148. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FAHConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:80452148
Cytoband: 15q25.1
HGVS: NM_000137.4(FAH):c.243G>A (p.Ala81=)
Allele change: Synonymous_A81A

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.