All transcript variants in gene ITK

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

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
?/. - c.68C>G r.(?) p.(Pro23Arg) - VUS g.156608056C>G g.157181045C>G ITK(NM_005546.3):c.68C>G (p.P23R) - ITK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.244-8G>A r.(=) p.(=) - benign g.156638290G>A g.157211279G>A ITK(NM_005546.3):c.244-8G>A - ITK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.769-13C>T r.(=) p.(=) - benign g.156665106C>T g.157238096C>T ITK(NM_005546.3):c.769-13C>T - ITK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.769-13C>T r.(=) p.(=) - benign g.156665106C>T g.157238096C>T ITK(NM_005546.3):c.769-13C>T - ITK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.769-13C>T r.(=) p.(=) - likely benign g.156665106C>T g.157238096C>T - - ITK_000003 16 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs56100638 Germline - 16/2795 individuals - 0 - Mohammed Faruq
-/. - c.769-10A>T r.(=) p.(=) - benign g.156665109A>T g.157238099A>T ITK(NM_005546.3):c.769-10A>T - ITK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.769-10A>T r.(=) p.(=) - benign g.156665109A>T g.157238099A>T ITK(NM_005546.3):c.769-10A>T - ITK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.822C>T r.(?) p.(Thr274=) - likely benign g.156665172C>T g.157238162C>T ITK(NM_005546.3):c.822C>T (p.T274=) - ITK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.933T>C r.(?) p.(Tyr311=) - likely benign g.156667153T>C g.157240143T>C ITK(NM_005546.3):c.933T>C (p.Y311=) - ITK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. 11 c.1003C>T r.(?) p.(Arg335Trp) - VUS g.156668673C>T g.157241663C>T - - ITK_000001 - PubMed: Huck 2009 - - Germline - - - 0 - Jelena Čalyševa
-?/. - c.1181G>A r.(?) p.(Arg394Gln) - likely benign g.156670753G>A g.157243743G>A ITK(NM_005546.3):c.1181G>A (p.R394Q) - ITK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1255G>A r.(?) p.(Val419Met) - VUS g.156671294G>A g.157244284G>A ITK(NM_005546.3):c.1255G>A (p.V419M) - ITK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1282C>A r.(?) p.(Gln428Lys) - likely benign g.156671321C>A g.157244311C>A ITK(NM_005546.3):c.1282C>A (p.Q428K) - ITK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1398G>T r.(?) p.(Val466=) - likely benign g.156671437G>T g.157244427G>T ITK(NM_005546.3):c.1398G>T (p.V466=) - ITK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1450-17G>A r.(=) p.(=) - benign g.156672719G>A g.157245709G>A ITK(NM_005546.3):c.1450-17G>A - ITK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1455C>T r.(?) p.(Ala485=) - likely benign g.156672741C>T g.157245731C>T ITK(NM_005546.3):c.1455C>T (p.A485=) - ITK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1455C>T r.(?) p.(Ala485=) - likely benign g.156672741C>T g.157245731C>T ITK(NM_005546.3):c.1455C>T (p.A485=) - ITK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1510A>T r.(?) p.(Thr504Ser) - likely benign g.156672796A>T g.157245786A>T ITK(NM_005546.3):c.1510A>T (p.T504S) - ITK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1563G>A r.(?) p.(Pro521=) - likely benign g.156672939G>A g.157245929G>A ITK(NM_005546.3):c.1563G>A (p.P521=) - ITK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1741C>T r.(?) p.(Arg581Trp) - VUS g.156675967C>T g.157248957C>T - - ITK_000017 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs34482255 Germline - 3/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1759G>A r.(?) p.(Val587Ile) - likely benign g.156675985G>A g.157248975G>A ITK(NM_005546.3):c.1759G>A (p.V587I) - ITK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1759G>A r.(?) p.(Val587Ile) - likely benign g.156675985G>A g.157248975G>A ITK(NM_005546.3):c.1759G>A (p.V587I) - ITK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*1361G>A r.(=) p.(=) - VUS g.156681049G>A g.157254039G>A - - ITK_000018 16 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs79627475 Germline - 16/2794 individuals - 0 - Mohammed Faruq
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