Full data view for gene ITK

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

37 entries on 1 page. Showing entries 1 - 37.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.68C>G r.(?) p.(Pro23Arg) Unknown - VUS g.156608056C>G g.157181045C>G ITK(NM_005546.4):c.68C>G (p.P23R) - ITK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>A r.(?) p.(Pro79=) Unknown - likely benign g.156635998G>A - ITK(NM_005546.3):c.237G>A (p.P79=) - ITK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>A r.(?) p.(Pro79=) Unknown - likely benign g.156635998G>A - ITK(NM_005546.3):c.237G>A (p.P79=) - ITK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.244-8G>A r.(=) p.(=) Unknown - benign g.156638290G>A g.157211279G>A ITK(NM_005546.3):c.244-8G>A - ITK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578G>A r.(?) p.(Arg193Gln) Unknown - likely benign g.156649955G>A - ITK(NM_005546.3):c.578G>A (p.R193Q) - ITK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769-13C>T r.(=) p.(=) Unknown - benign g.156665106C>T g.157238096C>T ITK(NM_005546.3):c.769-13C>T, ITK(NM_005546.4):c.769-13C>T - ITK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769-13C>T r.(=) p.(=) Unknown - benign g.156665106C>T g.157238096C>T ITK(NM_005546.3):c.769-13C>T, ITK(NM_005546.4):c.769-13C>T - ITK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.769-13C>T r.(=) p.(=) Parent #1 - likely benign g.156665106C>T g.157238096C>T - - ITK_000003 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56100638 Germline - 16/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
-/. - c.769-10A>T r.(=) p.(=) Unknown - benign g.156665109A>T g.157238099A>T ITK(NM_005546.3):c.769-10A>T, ITK(NM_005546.4):c.769-10A>T - ITK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.769-10A>T r.(=) p.(=) Unknown - benign g.156665109A>T g.157238099A>T ITK(NM_005546.3):c.769-10A>T, ITK(NM_005546.4):c.769-10A>T - ITK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822C>T r.(?) p.(Thr274=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.933T>C r.(?) p.(Tyr311=) Unknown - likely benign g.156667153T>C g.157240143T>C ITK(NM_005546.4):c.933T>C (p.Y311=) - ITK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1003C>T r.(?) p.(Arg335Trp) Unknown - VUS g.156668673C>T g.157241663C>T - - ITK_000001 - PubMed: Huck 2009 - - Germline - - - - - DNA ? - - IMDI - PubMed: Huck 2009 - F - - - - - - - 1 Jelena Čalyševa
?/. - c.1004G>A r.(?) p.(Arg335Gln) Unknown - VUS g.156668674G>A - ITK(NM_005546.3):c.1004G>A (p.R335Q) - ITK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060+30A>T r.(=) p.(=) Unknown - likely benign g.156668760A>T - ITK(NM_005546.4):c.1060+30A>T - ITK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1181G>A r.(?) p.(Arg394Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1181G>A r.(?) p.(Arg394Gln) Unknown - likely benign g.156670753G>A - ITK(NM_005546.3):c.1181G>A (p.R394Q) - ITK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255G>A r.(?) p.(Val419Met) Unknown - VUS g.156671294G>A g.157244284G>A ITK(NM_005546.4):c.1255G>A (p.V419M) - ITK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282C>A r.(?) p.(Gln428Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1320C>T r.(?) p.(=) Unknown - likely benign g.156671359C>T - ITK(NM_005546.3):c.1320C>T (p.H440=) - ITK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398G>T r.(?) p.(Val466=) Unknown - likely benign g.156671437G>T g.157244427G>T ITK(NM_005546.4):c.1398G>T (p.V466=) - ITK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1437C>A r.(?) p.(=) Unknown - VUS g.156671476C>A - ITK(NM_005546.4):c.1437C>A (p.(Ile479=)) - ITK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1450-17G>A r.(=) p.(=) Unknown - benign g.156672719G>A g.157245709G>A ITK(NM_005546.4):c.1450-17G>A - ITK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1455C>T r.(?) p.(Ala485=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1455C>T r.(?) p.(Ala485=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1494G>A r.(?) p.(=) Unknown - VUS g.156672780G>A - ITK(NM_005546.4):c.1494G>A (p.(Val498=)) - chr5_007998 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1510A>T r.(?) p.(Thr504Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1510A>T r.(?) p.(Thr504Ser) Unknown - likely benign g.156672796A>T - ITK(NM_005546.3):c.1510A>T (p.T504S) - ITK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1563G>A r.(?) p.(Pro521=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1596C>T r.(?) p.(Phe532=) Unknown - likely benign g.156672972C>T - ITK(NM_005546.3):c.1596C>T (p.F532=) - ITK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1634-16T>C r.(=) p.(=) Unknown - likely benign g.156675844T>C - ITK(NM_005546.3):c.1634-16T>C - ITK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1727G>A r.(?) p.(Arg576Gln) Both (homozygous) ACMG VUS g.156675953G>A g.157248943G>A - - ITK_000021 - PubMed: Stray-Pedersen 2017 - - De novo - - - - - DNA SEQ-NG - - IMD Pat85,1 PubMed: Stray-Pedersen 2017 - M - Turkey - 8y - - - 1 Johan den Dunnen
?/. - c.1741C>T r.(?) p.(Arg581Trp) Parent #1 - VUS g.156675967C>T g.157248957C>T - - ITK_000017 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34482255 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.1741C>T r.(?) p.(Arg581Trp) Unknown - VUS g.156675967C>T - - - ITK_000017 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1759G>A r.(?) p.(Val587Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1759G>A r.(?) p.(Val587Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1361G>A r.(=) p.(=) Parent #1 - VUS g.156681049G>A g.157254039G>A - - ITK_000018 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79627475 Germline - 16/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.