Variant (rsID / SNP)

rs74344827

rs74344827 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAT. Location: chromosome 16, position 71,610,276. Clinical significance in the table: Benign.

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Reference-table entries

TATBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:71610276
Cytoband: 16q22.2
HGVS: NM_000353.3(TAT):c.43C>T (p.Pro15Ser)
Allele change: Missense_P15S

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.