Variant (rsID / SNP)

rs200331133

rs200331133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITK. Location: chromosome 5, position 156,671,390. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ITKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:156671390
Cytoband: 5q33.3
HGVS: NM_005546.4(ITK):c.1351C>T (p.Arg451Trp)
Allele change: Missense_R451W

Associated conditions / phenotypes

Lymphoproliferative syndrome 1

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.