Unique variants in gene ITK

Information The variants shown are described using the NM_005546.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.68C>G VUS r.(?) p.(Pro23Arg) g.156608056C>G - ITK(NM_005546.3):c.68C>G (p.P23R) - ITK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.244-8G>A benign r.(=) p.(=) g.156638290G>A - ITK(NM_005546.3):c.244-8G>A - ITK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.769-13C>T benign r.(=) p.(=) g.156665106C>T - ITK(NM_005546.3):c.769-13C>T - ITK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Utrecht
-/. 2 - c.769-10A>T benign r.(=) p.(=) g.156665109A>T - ITK(NM_005546.3):c.769-10A>T - ITK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.822C>T likely benign r.(?) p.(=) g.156665172C>T - ITK(NM_005546.3):c.822C>T (p.T274=) - ITK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.933T>C likely benign r.(?) p.(=) g.156667153T>C - ITK(NM_005546.3):c.933T>C (p.Y311=) - ITK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 11 c.1003C>T - r.(?) p.(Arg335Trp) g.156668673C>T g.157241663C>T - - ITK_000001 - PubMed: Huck 2009 - - Germline - - - - - Jelena Čalyševa
-?/. 1 - c.1181G>A likely benign r.(?) p.(Arg394Gln) g.156670753G>A - ITK(NM_005546.3):c.1181G>A (p.R394Q) - ITK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1255G>A VUS r.(?) p.(Val419Met) g.156671294G>A - ITK(NM_005546.3):c.1255G>A (p.V419M) - chr5_006403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1282C>A likely benign r.(?) p.(Gln428Lys) g.156671321C>A - ITK(NM_005546.3):c.1282C>A (p.Q428K) - ITK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1398G>T likely benign r.(?) p.(=) g.156671437G>T - ITK(NM_005546.3):c.1398G>T (p.V466=) - ITK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1450-17G>A benign r.(=) p.(=) g.156672719G>A - ITK(NM_005546.3):c.1450-17G>A - ITK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1455C>T likely benign r.(?) p.(=) g.156672741C>T - ITK(NM_005546.3):c.1455C>T (p.A485=) - ITK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.1510A>T likely benign r.(?) p.(Thr504Ser) g.156672796A>T - ITK(NM_005546.3):c.1510A>T (p.T504S) - ITK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1563G>A likely benign r.(?) p.(=) g.156672939G>A - ITK(NM_005546.3):c.1563G>A (p.P521=) - chr5_006404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1759G>A likely benign r.(?) p.(Val587Ile) g.156675985G>A - ITK(NM_005546.3):c.1759G>A (p.V587I) - ITK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
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