Variant (rsID / SNP)

rs138304751

rs138304751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAT. Location: chromosome 16, position 71,603,836. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TATUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:71603836
Cytoband: 16q22.2
HGVS: NM_000353.3(TAT):c.1046A>G (p.Asn349Ser)
Allele change: Silent

Associated conditions / phenotypes

Tyrosinemia type II

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.