Variant (rsID / SNP)

rs55988893

rs55988893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYK2. Location: chromosome 19, position 10,477,209. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TYK2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:10477209
Cytoband: 19p13.2
HGVS: NM_003331.5(TYK2):c.513G>A (p.Ser171=)
Allele change: Synonymous_S171S

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.