Full data view for gene VWF

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

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/+? 28 c.3946G>A r.(?) p.(Val1316Met) Maternal (inferred) EAHAD-CFDB likely pathogenic g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Casaña et al., 1998 - - Germline yes - - - - DNA PCR, SEQ, SSCA - - VWD2 - PubMed: Casaña et al., 1998 Additional phenotypic information reported in Casaña et al. (1997) Rev Iberoamer Tromb Hemostasia 10, 15-22 F no (Spain) - - - - - 1 Daniel J Hampshire
+/+? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB likely pathogenic g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Moll et al., 1998 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Moll et al., 1998 - M ? Jamaica - - - - - 1 Daniel J Hampshire
+/+? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB likely pathogenic g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Eikenboom et al., 1994 - - De novo yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Eikenboom et al., 1994 - M ? (Netherlands) - - - - - 1 Daniel J Hampshire
+/+? 28 c.3946G>A r.(?) p.(Val1316Met) Paternal (confirmed) EAHAD-CFDB likely pathogenic g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Lillicrap et al., 1991; PubMed: Murray et al., 1992 - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Murray et al., 1991; PubMed: Lillicrap et al., 1991; PubMed: Murray et al., 1992 Previously reported as F2III.1 by Murray et al. (1991) and FII-3 by Lillicrap et al. (1991) M no (Canada) - - - - - 1 Daniel J Hampshire
+/+? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB likely pathogenic g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Randi et al., 1991a - - De novo yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Federici et al., 1986; PubMed: Randi et al., 1991a Previously reported as II3 by Federici et al. (1986). ? ? (Italy) - - - - - 1 Daniel J Hampshire
+/+? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB likely pathogenic g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Cooney et al., 1991 - - Unknown yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Cooney et al., 1991 - ? ? (United States) - - - - - 1 Daniel J Hampshire
+/+? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB likely pathogenic g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Piétu et al., 1992 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Piétu et al., 1992 - ? ? (France) - - - - - 1 Daniel J Hampshire
+/+? 28 c.3946G>A r.(?) p.(Val1316Met) Maternal (confirmed) EAHAD-CFDB likely pathogenic g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Rendal et al., 2001 - - Germline yes - - - - DNA PCR, SEQ, SSCA - - VWD2 - PubMed: Rendal et al., 2001 - M no (Spain) - - - - - 1 Daniel J Hampshire
+?/. 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
+/. 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Lillicrap et al., 1991 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Lillicrap et al., 1991 - ? ? (Canada) - - - - - 1 Daniel J Hampshire
+/. 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T g.6019472C>T - - VWF_000793 - PubMed: Lillicrap et al., 1991 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Lillicrap et al., 1991 - ? ? (Canada) - - - - - 1 Daniel J Hampshire
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? United States - - - - - 1 Pam Christopherson
+/? 28 c.3946G>A r.(?) p.(Val1316Met) Unknown EAHAD-CFDB VUS g.6128638C>T - - - VWF_000793 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - DNA PCR, SEQ - - VWD2 - Christopherson et al., 2020 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 ? ? Canada - - - - - 1 Pam Christopherson
+/. - c.3946G>A r.(?) p.(Val1316Met) Unknown - pathogenic g.6128638C>T - - - VWF_000793 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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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.

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