Full data view for gene VWF

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

18 entries on 1 page. Showing entries 1 - 18.
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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.6187C>T r.(?) p.(Pro2063Ser) Unknown - likely benign g.6103650G>A g.5994484G>A - - VWF_000716 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB benign g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 Related to individual 00234416 F ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 Related to individual 00234413 M ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 Related to individual 00234431 M ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 Related to individual 00234430 M ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD1 - PubMed: Borràs et al., 2017 - M ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 - F ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 Related to individuals 00240238 and 00240239 F ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 Related to individuals 00244431, 00244432 and 00244433 F ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Unknown EAHAD-CFDB VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Borràs et al., 2017 - rs61750615 Unknown ? 0.99/0.01 - - - DNA PCRm, SEQ-NG-I - - VWD2 - PubMed: Borràs et al., 2017 Related to individuals 00244465 and 00244466 F ? Spain - - - - - 1 Irene Corrales Insa
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Parent #1 other likely benign g.6103650G>A g.5994484G>A - - VWF_000716 207 heterozygous; Clinindb (India) PubMed: Narang et al., 2020, Journal: Narang et al., 2020 - rs61750615 Germline - 207/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang et al., 2020, Journal: Narang et al., 2020 analysis 2794 individuals (India) - - India - - - - - 207 Mohammed Faruq
-?/. 36 c.6187C>T r.(?) p.(Pro2063Ser) Both (homozygous) other likely benign g.6103650G>A g.5994484G>A - - VWF_000716 5 homozygous; Clinindb (India) PubMed: Narang et al., 2020, Journal: Narang et al., 2020 - rs61750615 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang et al., 2020, Journal: Narang et al., 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.6187C>T r.(?) p.(Pro2063Ser) Parent #2 - VUS g.6103650G>A g.5994484G>A - - VWF_000716 - PubMed: Yadegari 2012 - - Germline - - - - - DNA SEQ - - VWD - PubMed: Yadegari 2012 - - - Germany - - - - - 1 Johan den Dunnen
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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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