Full data view for gene ITGB2

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

33 entries on 1 page. Showing entries 1 - 33.
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     
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Maternal (confirmed) - pathogenic g.46321615G>A g.44901700G>A 606C>T - ITGB2_000183 - PubMed: Back 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - PubMed: Back 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - - - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Parent #1 - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 unknown variant 2nd chromosome PubMed: Ohashi 1993, Journal: Ohashi 1993, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - PubMed: Ohashi 1993, Journal: Ohashi 1993, PubMed: Van De Vijver 2012, Journal: Van De Vijver - F - Japan - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - 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
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - 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 - M - - - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 homozygosity likely Malawista 2003, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - Malawista 2003, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - Palestine - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - - Germline - - - - - DNA SEQ - - LAD Pat10 PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - M - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Deshpande 2016, Journal: Deshpande 2016 - - Germline - - - - - DNA SEQ - - LAD L4 PubMed: Deshpande 2016, Journal: Deshpande 2016 - - - - - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Deshpande 2016, Journal: Deshpande 2016 - - Germline - - - - - DNA SEQ - - LAD L18 PubMed: Deshpande 2016, Journal: Deshpande 2016 - - - - - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kwon 2020, Journal: Kwon 2020 - - Germline - - - - - DNA SEQ - - LAD - PubMed: Kwon 2020, Journal: Kwon 2020 - F - Korea - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Parent #1 - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kwon 2020, Journal: Kwon 2020 - - Germline - - - - - DNA SEQ - - LAD - PubMed: Kwon 2020, Journal: Kwon 2020 - F - Korea - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - Köker unpubl., PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD - Köker unpubl.PubMed: Roos 2023, Journal: Roos 2023 - - - Turkey - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - Journal: Haskologlu 2020 - - Germline - - - - - DNA SEQ - - LAD - Journal: Haskologlu 2020 - - - Turkey - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - Journal: Haskologlu 2020 - - Germline - - - - - DNA SEQ - - LAD - Journal: Haskologlu 2020 - - - Turkey - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Parent #1 - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Yaz 2021, Journal: Yaz 2021 - - Germline - - - - - DNA SEQ - - LAD Pat1 PubMed: Yaz 2021, Journal: Yaz 2021 - M - Turkey - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Yaz 2021, Journal: Yaz 2021 - - Germline - - - - - DNA SEQ - - LAD Pat6 PubMed: Yaz 2021, Journal: Yaz 2021 - M - Turkey - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Yaz 2021, Journal: Yaz 2021 - - Germline - - - - - DNA SEQ - - LAD Pat7 PubMed: Yaz 2021, Journal: Yaz 2021 - M - Turkey - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 homozygosity likely Klein unpubl., PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD - Klein unpubl.PubMed: Roos 2023, Journal: Roos 2023 - F - Turkey - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 homozygosity likely Klein unpubl., PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD - Klein unpubl.PubMed: Roos 2023, Journal: Roos 2023 - F - Turkey - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat10 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat35 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat36 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat66 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat67 PubMed: Kambli 2020, Journal: Kambli 2020 - F - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat90 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat92 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 homozygosity likely Kambli/Mad unpubl. , PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD Pat133 Kambli/Mad unpubl. PubMed: Roos 2023, Journal: Roos 2023 - F - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Parent #1 - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - Kanegane unpubl., PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD - Kanegane unpubl.PubMed: Roos 2023, Journal: Roos 2023 - F - Viet Nam - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat1 Journal: Kechout 2020 - M - Algeria - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Both (homozygous) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - Journal: Kechout 2020 - - Germline - - - - - DNA SEQ - - LAD Pat2 Journal: Kechout 2020 - F - Algeria - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Parent #2 - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Uzel 2010, Abs P256, Journal: Uzel 2010, Abs P256, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD Pat7 PubMed: Uzel 2010, Abs P256, Journal: Uzel 2010, Abs P256, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - - - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Paternal (confirmed) - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Sun 2019/Qian 2020, Journal: Sun 2019/Qian 2020, PubMed: Qian 2020, Journal: Qian 2020 - - Germline - - - - - DNA SEQ - - LAD Pat5 PubMed: Sun 2019/Qian 2020, Journal: Sun 2019/Qian 2020, PubMed: Qian 2020, Journal: Qian 2020 - F - China - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Parent #2 - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat71 PubMed: Kambli 2020, Journal: Kambli 2020 - F - India - - - - - 1 Dirk Roos
+/. 6 c.533C>T r.(?) p.(Pro178Leu) Parent #2 - pathogenic g.46321615G>A g.44901700G>A - - ITGB2_000183 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat75 PubMed: Kambli 2020, Journal: Kambli 2020 - F - India - - - - - 1 Dirk Roos
Legend   How to query  


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