Full data view for gene ITGB2

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

20 entries on 1 page. Showing entries 1 - 20.
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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     
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD Pat5 PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - F - Iran - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD Pat8 PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - Iran - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - - Germline - - - - - DNA SEQ - - LAD Pat8 PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - F - India - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - - Germline - - - - - DNA SEQ - - LAD Pat15 PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - M - India - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Teimourian 2017, Journal: Teimourian 2017 - - Germline - - - - - DNA SEQ - - LAD Pat1 PubMed: Teimourian 2017, Journal: Teimourian 2017 - F - Iran - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Tipu 2020, Journal: Tipu 2020 - - Germline - - - - - DNA SEQ - - LAD Pat1 PubMed: Tipu 2020, Journal: Tipu 2020 - M - Pakistan - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Tipu 2020, Journal: Tipu 2020 - - Germline - - - - - DNA SEQ - - LAD Pat2 PubMed: Tipu 2020, Journal: Tipu 2020 - M - Pakistan - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Tipu 2020, Journal: Tipu 2020 - - Germline - - - - - DNA SEQ - - LAD Pat3 PubMed: Tipu 2020, Journal: Tipu 2020 - M - Pakistan - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Tipu 2020, Journal: Tipu 2020 - - Germline - - - - - DNA SEQ - - LAD Pat4 PubMed: Tipu 2020, Journal: Tipu 2020 - M - Pakistan - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Yassaee 2016, Journal: Yassaee 2016 - - Germline - - - - - DNA SEQ - - LAD PatL3 PubMed: Yassaee 2016, Journal: Yassaee 2016 - F - Iran - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Yassaee 2016, Journal: Yassaee 2016 - - Germline - - - - - DNA SEQ - - LAD PatL9 PubMed: Yassaee 2016, Journal: Yassaee 2016 - F - Iran - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Yaz 2021, Journal: Yaz 2021 - - Germline - - - - - DNA SEQ - - LAD Pat11 PubMed: Yaz 2021, Journal: Yaz 2021 - M - Iraq - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat8 PubMed: Kambli 2020, Journal: Kambli 2020 - F - India - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat15 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Parent #1 - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat94 PubMed: Kambli 2020, Journal: Kambli 2020 - F - India - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - Schwarz unpubl., PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD fam. U13-0099 (3x) Schwarz unpubl.PubMed: Roos 2023, Journal: Roos 2023 - F - - - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - Schwarz unpubl., PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD fam. U13-0099 (3x) Schwarz unpubl.PubMed: Roos 2023, Journal: Roos 2023 - F - - - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - Schwarz unpubl., PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD fam. U13-0099 (3x) Schwarz unpubl.PubMed: Roos 2023, Journal: Roos 2023 - F - - - - - - - 1 Dirk Roos
+/. 5 c.382G>T r.(?) p.(Asp128Tyr) Both (homozygous) - pathogenic g.46323397C>A g.44903482C>A - - ITGB2_000204 - Schwarz unpubl., PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - LAD fam. U17-0081 Schwarz unpubl.PubMed: Roos 2023, Journal: Roos 2023 - M - - - - - - - 1 Dirk Roos
+/. - c.382G>T r.(?) p.(Asp128Tyr) Unknown - pathogenic g.46323397C>A - ITGB2(NM_000211.3):c.382G>T (p.D128Y) - ITGB2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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