Full data view for gene ITGB2

Information The variants shown are described using the NM_000211.3 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - Israel - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - Israel - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - Israel - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - Israel - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - Israel - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - PubMed: Simon 2010, Journal: Simon 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - F - Israel - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - - Germline - - - - - DNA SEQ - - LAD Pat22 PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - F - India - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - - Germline - - - - - DNA SEQ - - LAD Pat30 PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - M - India - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Jafari unpubl., PubMed: Grabowski 2019, Journal: Grabowski 2019 - - Germline - - - - - DNA SEQ - - LAD - Jafari unpubl., PubMed: Grabowski 2019, Journal: Grabowski 2019 - M - Germany - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Deshpande 2016, Journal: Deshpande 2016 - - Germline - - - - - DNA SEQ - - LAD L11 PubMed: Deshpande 2016, Journal: Deshpande 2016 - - - - - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Yaz 2021, Journal: Yaz 2021 - - Germline - - - - - DNA SEQ - - LAD Pat3 PubMed: Yaz 2021, Journal: Yaz 2021 - F - Turkey - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat22 PubMed: Kambli 2020, Journal: Kambli 2020 - F - India - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat30 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Parent #1 - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat71 PubMed: Kambli 2020, Journal: Kambli 2020 - F - India - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Parent #1 - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat75 PubMed: Kambli 2020, Journal: Kambli 2020 - F - India - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat120 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat125 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Schwarz unpubl., PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD fam. U16-0189 Schwarz unpubl.PubMed: Roos 2023, Journal: Roos 2023 - M - - - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat3 Journal: Kechout 2020 - M - Algeria - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat4 Journal: Kechout 2020 - M - Algeria - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat5 Journal: Kechout 2020 - M - Algeria - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat6 Journal: Kechout 2020 - F - Algeria - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat7 Journal: Kechout 2020 - M - Algeria - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat8 Journal: Kechout 2020 - F - Algeria - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat9 Journal: Kechout 2020 - F - Algeria - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat10 Journal: Kechout 2020 - M - Algeria - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Both (homozygous) - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat11 Journal: Kechout 2020 - F - Algeria - - - - - 1 Dirk Roos
+/. 6 c.562C>T r.(?) p.(Arg188Ter) Parent #2 - pathogenic g.46321586G>A g.44901671G>A - - ITGB2_000181 - CLB unpunl., PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Lorusso 2006, Journal: Lorusso 2006 - - Germline - - - - - DNA SEQ - - LAD - CLB unpunl., PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Lorusso 2006, Journal: Lorusso 2006 - F - - - - - - - 1 Dirk Roos
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