Full data view for gene VWF

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

21 entries on 1 page. Showing entries 1 - 21.
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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.3943C>T r.(?) p.(Arg1315Cys) Maternal (confirmed) EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994; PubMed: Zhang et al., 1995 - - De novo yes - - - - DNA PCR, SEQ - - VWD3 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994; PubMed: Zhang et al., 1995 Previously reported as KÖ by Anvret et al. (1992) and as IC6 by Zhang et al. (1994). F no (Sweden) - - - - - 1 Daniel J Hampshire
+/. - c.3943C>T r.(?) p.(Arg1315Cys) Unknown - pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 functional analysis rVWF expression in COS-7 cells PubMed: Ribba et al., 2001a - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Ribba et al., 2001a - M ? France - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 functional analysis rVWF expression in COS-7 cells PubMed: Ribba et al., 2001a - - Germline yes - - - - DNA DGGE, PCR, SEQ - - VWD2 - PubMed: Ribba et al., 2001a - F ? France - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 functional analysis rVWF expression in COS-7 cells PubMed: Ribba et al., 2001a - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - VWD2 - PubMed: Ribba et al., 2001a - F ? France - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 functional analysis rVWF expression in COS-7 cells PubMed: Ribba et al., 2001a - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - VWD2 - PubMed: Ribba et al., 2001a - F ? France - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 functional analysis rVWF expression in COS-7 cells PubMed: Ribba et al., 2001a - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - VWD2 - PubMed: Ribba et al., 2001a - F ? France - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 functional analysis rVWF expression in COS-7 cells PubMed: Ribba et al., 2001a - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - VWD2 - PubMed: Ribba et al., 2001a - M ? France - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Casaña et al., 1998 - - Germline yes - - - - DNA PCR, SEQ, SSCA - - VWD2 - PubMed: Casaña et al., 1998 - M ? (Spain) - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Paternal (confirmed) EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Goodeve et al., 2007 - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - F no Italy - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Goodeve et al., 2007 - - De novo yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - M no Spain - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Goodeve et al., 2007 - - Germline ? - - - - DNA PCR, SEQ - - VWD2 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - M no Czech Republic - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Goodeve et al., 2007 - - Germline yes - - - - DNA PCR, SEQ - - VWD2 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008 - F ? Czech Republic - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: James et al., 2007a - - Unknown yes - - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: James et al., 2007a - - Unknown yes - - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
+/+? 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB likely pathogenic g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: James et al., 2007a - - Unknown ? - - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
+?/. 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB VUS g.6128641G>A g.6019475G>A - - VWF_000029 - 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.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB VUS g.6128641G>A g.6019475G>A - - VWF_000029 - 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.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB VUS g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 Related to individual 00244451 F ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB VUS g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 Related to individual 00244450 M ? Spain - - - - - 1 Irene Corrales Insa
+?/. 28 c.3943C>T r.(?) p.(Arg1315Cys) Unknown EAHAD-CFDB VUS g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
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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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