Variant (rsID / SNP)

rs11555096

rs11555096 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAH. Location: chromosome 15, position 80,472,526. Clinical significance in the table: Benign/Likely benign; other.

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Reference-table entries

FAHBenign

Clinical significance (as recorded): Benign/Likely benign; other
Variant type: single nucleotide variant
Chromosome / position: 15:80472526
Cytoband: 15q25.1
HGVS: NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
Allele change: Missense_R341W

Associated conditions / phenotypes

Fumarylacetoacetase pseudodeficiency|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.