Unique variants in the ITGA2B gene

Information The variants shown are described using the NM_000419.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

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     
-?/. 1 - c.457G>A r.(?) p.(Ala153Thr) - likely benign g.42463036C>T g.44385668C>T ITGA2B(NM_000419.3):c.457G>A (p.A153T) - ITGA2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.487T>C r.(?) p.(Leu163=) - likely benign g.42463006A>G g.44385638A>G ITGA2B(NM_000419.3):c.487T>C (p.L163=) - ITGA2B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 - c.526C>G r.(?) p.(Pro176Ala) - pathogenic g.42462967G>C - ITGA2B(NM_000419.3):c.526C>G (p.P176A) - ITGA2B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.1545-8C>A r.(=) p.(=) - likely benign g.42457677G>T - ITGA2B(NM_000419.3):c.1545-8C>A - ITGA2B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1648C>T r.(?) p.(Arg550Trp) - VUS g.42457474G>A g.44380106G>A ITGA2B(NM_000419.3):c.1648C>T (p.R550W) - ITGA2B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1649G>A r.(?) p.(Arg550Gln) - VUS g.42457473C>T - - - ITGA2B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1752+2T>C r.spl? p.? - pathogenic g.42457368A>G - ITGA2B(NM_000419.3):c.1752+2T>C - ITGA2B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2297T>C r.(?) p.(Ile766Thr) - likely benign g.42453727A>G g.44376359A>G ITGA2B(NM_000419.3):c.2297T>C (p.I766T) - ITGA2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2621T>G r.(?) p.(Ile874Ser) - likely benign g.42453065A>C g.44375697A>C ITGA2B(NM_000419.3):c.2621T>G (p.I874S) - ITGA2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2916G>A r.(?) p.(Pro972=) - likely benign g.42452054C>T - ITGA2B(NM_000419.3):c.2916G>A (p.P972=) - ITGA2B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 - c.3060+2T>C r.spl? p.? - pathogenic g.42451720A>G g.44374352A>G ITGA2B(NM_000419.3):c.3060+2T>C - ITGA2B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 - c.3076C>T r.(?) p.(Arg1026Trp) - pathogenic g.42449776G>A g.44372408G>A - - ITGA2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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