All transcript variants in gene ITGA2

Information The variants shown are described using the NM_002203.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

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     
-/. - c.630+10A>G benign r.(=) p.(=) g.52344610A>G - ITGA2(NM_002203.3):c.630+10A>G - ITGA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.759C>T benign r.(?) p.(=) g.52347369C>T - ITGA2(NM_002203.3):c.759C>T (p.F253=) - ITGA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.825G>A benign r.(?) p.(=) g.52351413G>A - ITGA2(NM_002203.3):c.825G>A (p.T275=) - ITGA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1312+12T>C benign r.(=) p.(=) g.52355854T>C - ITGA2(NM_002203.3):c.1312+12T>C - ITGA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1602+15del benign r.(=) p.(=) g.52358774del - ITGA2(NM_002203.3):c.1602+15delA - ITGA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2084-9_2084-8dup likely benign r.(=) p.(=) g.52365930_52365931dup - ITGA2(NM_002203.3):c.2084-8_2084-7dupTT - ITGA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2236-10G>A likely benign r.(=) p.(=) g.52367758G>A - ITGA2(NM_002203.3):c.2236-10G>A - ITGA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2742-4A>G likely benign r.spl? p.? g.52371047A>G - ITGA2(NM_002203.3):c.2742-4A>G - ITGA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.2742-2A>G pathogenic r.spl? p.? g.52371049A>G - ITGA2(NM_002203.3):c.2742-2A>G (p.?) - ITGA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2742-2A>G VUS r.spl? p.? g.52371049A>G - ITGA2(NM_002203.3):c.2742-2A>G (p.?) - ITGA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3040-19G>A likely benign r.(=) p.(=) g.52377403G>A - ITGA2(NM_002203.3):c.3040-19G>A - ITGA2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.3252C>T benign r.(?) p.(=) g.52379277C>T - ITGA2(NM_002203.3):c.3252C>T (p.F1084=) - ITGA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
./. - c.3385G>A - r.(?) p.(Glu1129Lys) g.52385812G>A g.53089982G>A NM_002203.3(ITGA2):c.3385G>A p.(Glu1129Lys) - ITGA2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
?/. - c.3425_3426insT VUS r.(?) p.(Ile1143Asnfs*22) g.52385852_52385853insT - ITGA2(NM_002203.3):c.3425_3426insT (p.I1143Nfs*22) - ITGA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*8010T>C likely benign r.(=) p.(=) g.52394439T>C - MOCS2(NM_004531.4):c.560A>G (p.N187S) - ITGA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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