Full data view for gene VWF

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     

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     
+?/+? 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Both (homozygous) EAHAD-CFDB likely pathogenic g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-3 - PubMed: Corrales et al., 2009 - ? yes (Spain) - - 0 - - 1 Daniel J Hampshire
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Unknown EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Unknown EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Unknown EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Both (homozygous) EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Both (homozygous) EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Both (homozygous) EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 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.