Full data view for gene VWF

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

39 entries on 1 page. Showing entries 1 - 39.
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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     
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Maternal (confirmed) EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 functional analysis rVWF expression in 293 EBNA cells PubMed: Goodeve et al., 2007; PubMed: Hickson et al., 2010 - rs33978901 Germline yes 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: Goodeve et al., 2007; PubMed: Hickson et al., 2010 - M no Germany - - - - - 1 Daniel J Hampshire
+/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Casais et al., 2006 - rs33978901 Unknown yes 0.99/0.01 - - - DNA CSGE, PCR, SEQ - - VWD2 - PubMed: Casais et al., 2006 - M ? (Argentina) - - - - - 1 Daniel J Hampshire
+/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Casais et al., 2006 - rs33978901 Unknown ? 0.99/0.01 - - - DNA CSGE, PCR, SEQ - - VWD2 - PubMed: Casais et al., 2006 - M ? (Argentina) - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Maternal (inferred) EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 functional analysis rVWF expression in 293 EBNA cells PubMed: Goodeve et al., 2007; PubMed: Hickson et al., 2010 - rs33978901 Unknown yes 0.99/0.01 - - - DNA PCR, SEQ - - VWD2 - PubMed: Goodeve et al., 2007; PubMed: Budde et al., 2008; PubMed: Hickson et al., 2010 - F no Italy - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Paternal (inferred) EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 functional analysis rVWF expression in 293 EBNA cells PubMed: Goodeve et al., 2007; PubMed: Hickson et al., 2010 - rs33978901 Unknown no 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: Goodeve et al., 2007; PubMed: Hickson et al., 2010 - F no Netherlands - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Maternal (inferred) EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 functional analysis rVWF expression in 293 EBNA cells PubMed: Goodeve et al., 2007; PubMed: Hickson et al., 2010 - rs33978901 Unknown no 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: Goodeve et al., 2007; PubMed: Hickson et al., 2010 - M no Netherlands - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 functional analysis rVWF expression in 293 EBNA cells PubMed: Hickson et al., 2010 - rs33978901 Unknown ? 0.99/0.01 - - - DNA MS, PCR, SEQ - - VWD1 - PubMed: Hickson et al., 2010 - F no Denmark - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Maternal (confirmed) EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 functional analysis rVWF expression in 293 EBNA cells PubMed: Hickson et al., 2010 - rs33978901 Germline no 0.99/0.01 - - - DNA MS, PCR, SEQ - - VWD3 - PubMed: Hickson et al., 2010 - F no Czech Republic - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: James et al., 2007a - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: James et al., 2007a - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: James et al., 2007a - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Parent #1 EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: James et al., 2007a - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: James et al., 2007a - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: James et al., 2007a - rs33978901 Unknown ? - - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: James et al., 2007a - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: James et al., 2007a - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCR, SEQ - - VWD1 - PubMed: James et al., 2007a - ? ? Canada - - - - - 1 Daniel J Hampshire
?/? 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - Unpublished - rs33978901 Unknown ? 0.99/0.01 - - - DNA ? - - VWD2 - Unpublished - ? ? (Brazil) - - - - - 1 Daniel J Hampshire
-/? 21 c.2771G>A r.(?) p.(Arg924Gln) Parent #1 EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 functional analysis rVWF expression in COS-7 cells PubMed: Hilbert et al., 2003 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCR, SEQ - - VWD2 - PubMed: Hilbert et al., 2003 - M ? (France) - - - - - 1 Daniel J Hampshire
?/. - c.2771G>A r.(?) p.(Arg924Gln) Unknown - VUS g.6140659C>T g.6031493C>T VWF(NM_000552.5):c.2771G>A (p.R924Q) - VWF_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 Related to individuals 00234347 and 00234349 M ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD3 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 Related to individual 00240490 M ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 Related to individuals 00244430, 00244431 and 00244432 M ? Spain - - - - - 1 Irene Corrales Insa
?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Unknown EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 Related to individual 00244490 M ? Spain - - - - - 1 Irene Corrales Insa
-?/. 21 c.2771G>A r.(?) p.(Arg924Gln) Parent #1 other likely benign g.6140659C>T g.6031493C>T - - VWF_000128 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang et al., 2020, Journal: Narang et al., 2020 - rs33978901 Germline - 10/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang et al., 2020, Journal: Narang et al., 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
?/. - c.2771G>A r.(?) p.(Arg924Gln) Parent #2 - VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.2771G>A r.(?) p.(Arg924Gln) Parent #2 - pathogenic g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.2771G>A r.(?) p.(Arg924Gln) Unknown - pathogenic (recessive) g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
?/. - c.2771G>A r.(?) p.(Arg924Gln) Unknown - VUS g.6140659C>T g.6031493C>T 2771C>T - VWF_000128 - PubMed: Duvvari 2016 - rs33978901 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat11AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
?/. - c.2771G>A r.(?) p.(Arg924Gln) Unknown - VUS g.6140659C>T g.6031493C>T c.2771C>T - VWF_000128 - PubMed: Duvvari 2016 - rs33978901 Germline - 3/3 affected, 1/1 unaffected - - - DNA SEQ, SEQ-NG - WES retinal disease Fam3 PubMed: Duvvari 2016 2-generation family, 4 affected (3F, M) - - Netherlands white - - - - 3 LOVD
?/. - c.2771G>A r.(?) p.(Arg924Gln) Unknown - VUS g.6140659C>T - VWF(NM_000552.5):c.2771G>A (p.R924Q) - VWF_000128 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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