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     
+/. - c.817G>A r.(?) p.(Gly273Arg) Paternal (confirmed) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - no variant 2nd allele reported - - De novo - - - - - DNA SEQ-NG - - ? 7 - - M - China - - - - - 1 Sha Hong
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Parent #1 - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - 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 - M - - - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 homozygosity likely 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
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - - Germline - - - - - DNA SEQ - - LAD Pat12 PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - M - India - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Parent #1 - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - - Germline - - - - - DNA SEQ - - LAD Pat13 PubMed: Madkaikar 2015, Journal: Madkaikar 2015 - M - India - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Sun 2019/Qian 2020, Journal: Sun 2019/Qian 2020, PubMed: Qian 2020, Journal: Qian 2020 - - Germline - - - - - DNA SEQ - - LAD Pat1 PubMed: Sun 2019/Qian 2020, Journal: Sun 2019/Qian 2020, PubMed: Qian 2020, Journal: Qian 2020 - M - China - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Tipu 2020, Journal: Tipu 2020 - - Germline - - - - - DNA SEQ - - LAD Pat13 PubMed: Tipu 2020, Journal: Tipu 2020 - M - Pakistan - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Tipu 2020, Journal: Tipu 2020 - - Germline - - - - - DNA SEQ - - LAD Pat14 PubMed: Tipu 2020, Journal: Tipu 2020 - F - Pakistan - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Yamazaki-Nakashimada 2015, Journal: Yamazaki-Nakashimada 2015 - - Germline - - - - - DNA SEQ - - LAD Pat1 PubMed: Yamazaki-Nakashimada 2015, Journal: Yamazaki-Nakashimada 2015 - M - Mexico - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Yamazaki-Nakashimada 2015, Journal: Yamazaki-Nakashimada 2015 - - Germline - - - - - DNA SEQ - - LAD Pat2 PubMed: Yamazaki-Nakashimada 2015, Journal: Yamazaki-Nakashimada 2015 - M - Mexico - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Yaz 2021, Journal: Yaz 2021 - - Germline - - - - - DNA SEQ - - LAD Pat5 PubMed: Yaz 2021, Journal: Yaz 2021 - F - Turkey - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat20 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Parent #1 - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat13 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat38 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat39 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat40 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Both (homozygous) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat41 PubMed: Kambli 2020, Journal: Kambli 2020 - M - India - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Parent #2 - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Hogg 1999, Journal: Hogg 1999, PubMed: Van De Vijver 2012, Journal: Van De Vijver - - Germline - - - - - DNA SEQ - - LAD - PubMed: Hogg 1999, Journal: Hogg 1999, PubMed: Van De Vijver 2012, Journal: Van De Vijver - M - United Kingdom (Great Britain) - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Parent #2 - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - 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 - M - - - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Parent #2 - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - 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 - M - - - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Maternal (confirmed) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Sun 2019/Qian 2020, Journal: Sun 2019/Qian 2020, PubMed: Qian 2020, Journal: Qian 2020 - - Germline - - - - - DNA SEQ - - LAD Pat3 PubMed: Sun 2019/Qian 2020, Journal: Sun 2019/Qian 2020, PubMed: Qian 2020, Journal: Qian 2020 - M - China - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Parent #2 - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Kambli 2020, Journal: Kambli 2020 - - Germline - - - - - DNA SEQ - - LAD Pat94 PubMed: Kambli 2020, Journal: Kambli 2020 - F - India - - - - - 1 Dirk Roos
+/. 7 c.817G>A r.(?) p.(Gly273Arg) Parent #2 - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - PubMed: Wang 2020, Journal: Wang 2020 - - Germline - - - - - DNA SEQ - - LAD boy PubMed: Wang 2020, Journal: Wang 2020 - M - China - - - - - 1 Dirk Roos
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