Variant (rsID / SNP)

rs12720356

rs12720356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYK2. Location: chromosome 19, position 10,469,975. Clinical significance in the table: Benign.

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Reference-table entries

TYK2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:10469975
Cytoband: 19p13.2
HGVS: NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser)
Allele change: Missense_I684S

Associated conditions / phenotypes

Immunodeficiency 35

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.