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Variant (rsID / SNP)

rs34482255

ITK

rs34482255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITK. Location: chromosome 5, position 156,675,967. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ITKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:156675967
Cytoband
5q33.3
HGVS
NM_005546.4(ITK):c.1741C>T (p.Arg581Trp)
Allele change
Missense_R581W

Associated conditions / phenotypes

Lymphoproliferative syndrome 1|Autoinflammatory syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.