Full data view for gene VWF

Information The variants shown are described using the NM_000552.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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     
?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Parent #2 EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: James et al., 2007a - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
-?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Maternal (confirmed) EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Goodeve et al., 2007 - rs1800386 Germline no 0.997/0.003 - - - DNA PCR, SEQ - - VWD1 - PubMed: Goodeve et al., 2007 - M no France - - - - - 1 Daniel J Hampshire
+/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Parent #2 EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: James et al., 2007a - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
+/? 28 c.4751A>G r.(?) p.(Tyr1584Cys) Parent #1 EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: James et al., 2007a - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
+/. - c.4751A>G r.(?) p.(Tyr1584Cys) Unknown - pathogenic g.6127833T>C g.6018667T>C VWF(NM_000552.3):c.4751A>G (p.Y1584C, p.(Tyr1584Cys)), VWF(NM_000552.4):c.4751A>G (p.Y1584C), VWF(NM_000552.5):c.4751A>G (p.Y1584C) - VWF_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Unknown EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Borràs et al., 2017 - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Unknown EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Borràs et al., 2017 - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Unknown EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Borràs et al., 2017 - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 Related to individual 00181033 F ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Unknown EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Borràs et al., 2017 - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Unknown EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Borràs et al., 2017 - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Unknown EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Borràs et al., 2017 - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Unknown EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Borràs et al., 2017 - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
-?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Unknown EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Borràs et al., 2017 - rs1800386 Unknown ? 0.997/0.003 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
+/. - c.4751A>G r.(?) p.(Tyr1584Cys) Unknown - pathogenic g.6127833T>C g.6018667T>C VWF(NM_000552.3):c.4751A>G (p.Y1584C, p.(Tyr1584Cys)), VWF(NM_000552.4):c.4751A>G (p.Y1584C), VWF(NM_000552.5):c.4751A>G (p.Y1584C) - VWF_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4751A>G r.(?) p.(Tyr1584Cys) Unknown - likely pathogenic g.6127833T>C g.6018667T>C VWF(NM_000552.3):c.4751A>G (p.Y1584C, p.(Tyr1584Cys)), VWF(NM_000552.4):c.4751A>G (p.Y1584C), VWF(NM_000552.5):c.4751A>G (p.Y1584C) - VWF_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Parent #1 other VUS g.6127833T>C g.6018667T>C - - VWF_000117 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang et al., 2020, Journal: Narang et al., 2020 - rs1800386 Germline - 2/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang et al., 2020, Journal: Narang et al., 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.4751A>G r.(?) p.(Tyr1584Cys) Unknown - pathogenic g.6127833T>C - VWF(NM_000552.3):c.4751A>G (p.Y1584C, p.(Tyr1584Cys)), VWF(NM_000552.4):c.4751A>G (p.Y1584C), VWF(NM_000552.5):c.4751A>G (p.Y1584C) - VWF_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4751A>G r.(?) p.(Tyr1584Cys) Unknown - pathogenic (dominant) g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.4751A>G r.(?) p.(Tyr1584Cys) Unknown - pathogenic (dominant) g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
?/. - c.4751A>G r.(?) p.(Tyr1584Cys) Parent #1 - VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
+?/. 28 c.4751A>G r.(?) p.(Tyr1584Cys) Unknown other likely pathogenic g.6127833T>C - - - VWF_000117 - Unpublished - - Germline - - - - - DNA SEQ - - VWD1 - Unpublished - F - Sweden - - - - - 1 Anna Olsson
+/. - c.4751A>G r.(?) p.(Tyr1584Cys) Unknown - pathogenic g.6127833T>C - VWF(NM_000552.3):c.4751A>G (p.Y1584C, p.(Tyr1584Cys)), VWF(NM_000552.4):c.4751A>G (p.Y1584C), VWF(NM_000552.5):c.4751A>G (p.Y1584C) - VWF_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

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