Full data view for gene ITGB2

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD Pat6 PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - F - Iran - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD Pat7 PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - F - Iran - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.[897_898ins[a;897+2_897+64],897_898ins[a;897+2_897+298],897_898ins[a;897+2_898-1]] p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Tsai 2008, Journal: Tsai 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LAD patient PubMed: Tsai 2008, Journal: Tsai 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - Taiwan - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.[897_898ins[a;897+2_897+64],897_898ins[a;897+2_897+298],897_898ins[a;897+2_898-1]] p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Matsuura 1992, Journal: Matsuura 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LAD PatY PubMed: Matsuura 1992, Journal: Matsuura 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver 2 generation family, affected sister/brother, unaffected heterozygous carrier parents F - Japan - - - - - 2 Dirk Roos
+/. 7i c.897+1G>A r.[897_898ins[a;897+2_897+64],897_898ins[a;897+2_897+298],897_898ins[a;897+2_898-1]] p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Matsuura 1992, Journal: Matsuura 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LAD patient PubMed: Matsuura 1992, Journal: Matsuura 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver brother M - Japan - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - - Germline - - - - - DNA SEQ - - LAD Pat14 PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - M - - - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Parent #1 - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - GeneDx unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - GeneDx unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver - F - - - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - Beloh/Schwarz unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD girl Beloh/Schwarz unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver - F - Turkey - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Teimourian 2019, Journal: Teimourian 2019 - - Germline - - - - - DNA SEQ - - LAD Pat1 PubMed: Teimourian 2019, Journal: Teimourian 2019 - F - Iran - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Teimourian 2019, Journal: Teimourian 2019 - - Germline - - - - - DNA SEQ - - LAD Pat7 PubMed: Teimourian 2019, Journal: Teimourian 2019 - - - Iran - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Teimourian 2019, Journal: Teimourian 2019 - - Germline - - - - - DNA SEQ - - LAD Pat12 PubMed: Teimourian 2019, Journal: Teimourian 2019 - F - Iran - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T IVS7+1G>A - ITGB2_000144 - PubMed: Deshpande 2016, Journal: Deshpande 2016 - - Germline - - - - - DNA SEQ - - LAD L9 PubMed: Deshpande 2016, Journal: Deshpande 2016 - - - - - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T IVS7+1G>A - ITGB2_000144 - PubMed: Hu 2014, Journal: Hu 2014 - - Germline - - - - - DNA SEQ - - LAD - PubMed: Hu 2014, Journal: Hu 2014 - M - Taiwan China - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T IVS7+1G>A - ITGB2_000144 - PubMed: Tipu 2020, Journal: Tipu 2020 - - Germline - - - - - DNA SEQ - - LAD Pat9 PubMed: Tipu 2020, Journal: Tipu 2020 - M - Pakistan - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T IVS7+1G>A - ITGB2_000144 - PubMed: Tipu 2020, Journal: Tipu 2020 - - Germline - - - - - DNA SEQ - - LAD Pat10 PubMed: Tipu 2020, Journal: Tipu 2020 - F - Pakistan - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T IVS7+1G>A - ITGB2_000144 - PubMed: Yassaee 2016, Journal: Yassaee 2016 - - Germline - - - - - DNA SEQ - - LAD PatL8 PubMed: Yassaee 2016, Journal: Yassaee 2016 - F - Iran - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T IVS7+1G>A - ITGB2_000144 - PubMed: Yassaee 2016, Journal: Yassaee 2016 - - Germline - - - - - DNA SEQ - - LAD PatL16 PubMed: Yassaee 2016, Journal: Yassaee 2016 - F - Iran - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat14 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat62 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat81 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Both (homozygous) - pathogenic g.46320234C>T g.44900319C>T IVS7+1G>A - ITGB2_000144 homozygosity likely Kambli/Mad unpubl. , PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD Pat136 Kambli/Mad unpubl. PubMed: Roos 2023, Journal: Roos 2023 - M - India - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.spl p.? Parent #2 - pathogenic g.46320234C>T g.44900319C>T - - ITGB2_000144 - CLB unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - CLB unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver - F - - - - - - - 1 Dirk Roos
+/. 7i c.897+1G>A r.(742_897del) p.? Maternal (confirmed) - pathogenic g.46320234C>T g.44900319C>T IVS7+1G>A - ITGB2_000144 - PubMed: Sun 2019, Journal: Sun 2019 - - Germline - - - - - DNA SEQ - - LAD Pat6 PubMed: Sun 2019, Journal: Sun 2019 - M - China - - - - - 1 Dirk Roos
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