Unique variants in gene VWF

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

553 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     

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     

Owner     
?/. 5 _1 c.-1927T>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6235513A>C - - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/? 1 _1 c.-1507C>T r.(=) EAHAD-CFDB: ? p.(=) - - - g.6235093G>A g.6125927G>A - - VWF_000178 - PubMed: James et al., 2007a - - Unknown ? - - - - Daniel J Hampshire
?/. 1 _1 c.-1468C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6235054G>A - - - VWF_000932 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 2 _1 c.-1403C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6234989G>A, g.6236213G>A - - - VWF_000852 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
-?/? 1 _1 c.-1391A>G r.(=) EAHAD-CFDB: ? p.(=) - - - g.6234977T>C g.6125811T>C - - VWF_000188 - PubMed: James et al., 2007a - - Unknown ? - - - - Daniel J Hampshire
?/?, -?/? 3 _1 c.-1298C>T r.(=) EAHAD-CFDB: ? p.(=) - - - g.6234884G>A g.6125718G>A - - VWF_000177 - PubMed: James et al., 2007a - rs151088025 Unknown ? 0.99/0.01 - - - Daniel J Hampshire
?/. 4 _1 c.-853A>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6234439T>A - - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 _1 c.-852A>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6234438T>C - - - VWF_000925 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 5 _1 c.-819C>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234405G>T - - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 _1 c.-672C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6234258G>A - - - VWF_000939 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 3 _1 c.-651G>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234237C>T - - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 _1 c.-649A>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6234235T>C - - - VWF_000957 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 _1 c.-426G>C r.(=) EAHAD-CFDB: . p.(=) - - - g.6234012C>G - - - VWF_000918 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 1 c.-138A>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6233724T>C - - - VWF_000971 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
-?/. 1 - c.-112T>A r.(?) likely benign p.(=) - - - g.6233698A>T - VWF(NM_000552.3):c.-112T>A (p.?) - VWF_001016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-112T>C r.(?) likely benign p.(=) - - - g.6233698A>G - VWF(NM_000552.3):c.-112T>C (p.?) - VWF_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 _1_52_ c.(?_-1)_(*1_?)del r.0 EAHAD-CFDB: . p.0 - - - g.(?_6058180)_(6233587_?)del - - - VWF_000645 - PubMed: Acquila et al., 2009 - - Germline/De novo (untested) ? - - - - Daniel J Hampshire
+/+? 1 27i_28 c.3675-45_3692con[NG_001212.4:g.6361_6423] r.(?) EAHAD-CFDB: +? p.[(Val1229Gly;Asn1231Thr)] - - - g.6128892_6128954conNC_000022.11:17179029_17179091 - - - VWF_000183 - PubMed: Eikenboom et al., 1998 - - Germline yes - - - - Daniel J Hampshire
+/+? 3 28 c.3686_3692con[NG_001212.4:g.6417_6423] r.(?) EAHAD-CFDB: +? p.[(Val1229Gly;Asn1231Thr)] - - - g.6128892_6128898conNC_000022.11:17179029_17179035 - - - VWF_000186 - PubMed: James et al., 2007a - - Unknown ? - - - - Daniel J Hampshire
+/+? 2 28 c.3789_3797con[NG_001212.4:g.6520_6528] r.(=), r.(?) EAHAD-CFDB: +? p.[(Ser1263=;Pro1266Leu)] - - - g.6128787_6128795conNC_000022.11:17178924_17178932 - - - VWF_000194 - PubMed: Holmberg et al., 1993 - - Germline, Unknown yes, ? - - - - Daniel J Hampshire
+/+? 1 28 c.3789_3835con[NG_001212.4:g.6520_6566] r.(?) EAHAD-CFDB: +? p.[(Ser1263=;Pro1266Leu;Val1279Ile)] - - - g.6128749_6128795conNC_000022.11:17178886_17178932 - - - VWF_000646 - PubMed: Eikenboom et al., 1993 - - Unknown ? - - - - Daniel J Hampshire
+/+? 4 28 c.3797_3835con[NG_001212.4:g.6528_6566] r.(?) EAHAD-CFDB: +? p.[(Pro1266Leu;Val1279Ile)] - - - g.6128749_6128787conNC_000022.11:17178886_17178924 - - - VWF_000189 - PubMed: James et al., 2007a - - Unknown ? - - - - Daniel J Hampshire
+/+?, +?/. 2 28 c.3835_4105con[NG_001212.4:g.6566_6836] r.(?) EAHAD-CFDB: +?, EAHAD-CFDB: . p.[(Val1279Ile;Gln1311*)] - - - g.6128479_6128749conNC_000022.11:17178616_17178886 - - - VWF_000658 - PubMed: Corrales et al., 2009, PubMed: Borràs et al., 2017 - - Unknown ? - - - - Daniel J Hampshire, Irene Corrales Insa
-/. 1 - c.1-20C>T r.(=) benign p.(=) - - - g.6232382G>A - VWF(NM_000552.3):c.1-20C>T (p.?) - VWF_000783 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +?/. 2 2 c.55G>A r.(?) EAHAD-CFDB: . p.(Gly19Arg) - - - g.6232308C>T g.6123142C>T - - VWF_000001 Functional analysis: rVWF expression in COS-7 cells; normal VWF expression when expressed in vitro PubMed: Borràs et al., 2017, PubMed: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009 - - Unknown, Germline ? - - - - Irene Corrales Insa, Daniel J Hampshire
-/. 1 - c.55+8C>A r.(=) benign p.(=) - - - g.6232300G>T - VWF(NM_000552.3):c.55+8C>A - VWF_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 2i c.55+69A>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6232239T>C - - - VWF_000834 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/. 1 3 c.100C>G r.(?) EAHAD-CFDB: . p.(Arg34Gly) - - - g.6230460G>C g.6121294G>C - - VWF_000002 - PubMed: Hampshire et al., 2013 - - Germline yes - - - - Daniel J Hampshire
+?/., +/. 3 3 c.100C>T r.(?) EAHAD-CFDB: . p.(Arg34*) - - - g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Borràs et al., 2017, PubMed: Corrales et al., 2009 - - Unknown ? - - - - Irene Corrales Insa, Daniel J Hampshire
-?/. 2 - c.114C>T r.(?) likely benign p.(=) - - - g.6230446G>A - VWF(NM_000552.3):c.114C>T (p.=) - VWF_000782 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 3 c.139G>C r.(?) EAHAD-CFDB: . p.(Asp47His) - - - g.6230421C>G g.6121255C>G - - VWF_000004 - PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+?/. 1 3 c.147C>A r.(?) EAHAD-CFDB: . p.(Ser49Arg) - - - g.6230413G>T g.6121247G>T - - VWF_000005 Functional analysis: rVWF expression in COS-7 cells PubMed: Hampshire et al., 2013 - - Germline yes - - - - Daniel J Hampshire
+/. 1 3 c.171C>A r.(?) EAHAD-CFDB: . p.(Cys57*) - - - g.6230389G>T g.6121223G>T - - VWF_000006 - PubMed: Hampshire et al., 2013 - - Germline yes - - - - Daniel J Hampshire
+/. 1 3 c.191del r.(?) EAHAD-CFDB: . p.(Gly64Alafs*19) - - - g.6230369del g.6121203del - - VWF_000007 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/. 1 3 c.212C>A r.(?) EAHAD-CFDB: . p.(Ser71*) - - - g.6230348G>T g.6121182G>T - - VWF_000008 - PubMed: Li et al., 1998; PubMed: Wang et al., 2000a - - Germline yes - - - - Daniel J Hampshire
?/. 2 3i c.220+100G>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6230240C>T - - - VWF_000943 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 3i c.221-70G>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6220204C>A - - - VWF_000827 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/+ 1 4 c.229C>T r.[=, 229c>u] EAHAD-CFDB: + p.[=, Gln77*] - - - g.6220126G>A g.6110960G>A - - VWF_000063 functional analysis of RNA from patient platelets PubMed: Eikenboom et al., 1998; PubMed: Castaman et al., 2010b - - Germline yes - - - - Daniel J Hampshire
+?/. 1 4 c.246_247insT r.(?) EAHAD-CFDB: . p.(Ser83*) - - - g.6220108_6220109insA - - - VWF_000835 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+?/., ?/. 2 4 c.250C>T r.(?) EAHAD-CFDB: ., VUS p.(Leu84Phe) - - - g.6220105G>A - VWF(NM_000552.3):c.250C>T (p.(Leu84Phe)) - VWF_000907 VKGL data sharing initiative Nederland PubMed: Borràs et al., 2017 - - Unknown, CLASSIFICATION record ? - - - - Irene Corrales Insa, VKGL-NL
+/. 1 4 c.253T>C r.(?) EAHAD-CFDB: . p.(Ser85Pro) - - - g.6220102A>G g.6110936A>G - - VWF_000009 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/. 1 4 c.260A>C r.260a>c EAHAD-CFDB: . p.Tyr87Ser - - - g.6220095T>G g.6110929T>G - - VWF_000012 Functional analysis: rVWF expression in COS-7 and AtT-20 cells PubMed: Rosenberg et al., 2002 - - Germline yes - - - - Daniel J Hampshire
+/. 1 4 c.276del r.(?) EAHAD-CFDB: . p.(Phe92Leufs*11) - - - g.6220079del g.6110913del - - VWF_000013 - PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/. 1 4 c.276dup r.(?) EAHAD-CFDB: . p.(Asp93*) - - - g.6220079dup g.6110913dup - - VWF_000015 - PubMed: Jorieux et al., 2000 - - Germline yes - - - - Daniel J Hampshire
+?/. 1 4i_5 c.324-2_326dup r.spl? EAHAD-CFDB: . p.? - - - g.6219746_6219750dup - - - VWF_000849 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+?/? 1 5 c.374_387del r.(?) EAHAD-CFDB: ? p.(Gly125Valfs*3) - - - g.6219685_6219698del g.6110519_6110532del - - VWF_000017 - PubMed: Kakela et al., 2006 - - Germline ? - - - - Daniel J Hampshire
+?/., +?/+? 7 5 c.375_376delinsC r.(?) EAHAD-CFDB: ., EAHAD-CFDB: +? p.(Tyr126Thrfs*49) - - - g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017, PubMed: Corrales et al., 2009 - - Unknown ? - - - - Irene Corrales Insa, Daniel J Hampshire
+/+? 1 5 c.385C>A r.(?) EAHAD-CFDB: ? p.(Leu129Met) - - - g.6219687G>T g.6110521G>T - - VWF_000022 - PubMed: James et al., 2007a - - Unknown ? - - - - Daniel J Hampshire
-/. 1 - c.390C>T r.(?) benign p.(=) - - - g.6219682G>A - VWF(NM_000552.3):c.390C>T (p.(=)) - VWF_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 5 c.421G>A r.(?) EAHAD-CFDB: +? p.(Asp141Asn) - - - g.6219651C>T g.6110485C>T - - VWF_000024 - PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 5 c.421G>T r.(?) EAHAD-CFDB: +? p.(Asp141Tyr) - - - g.6219651C>A g.6110485C>A - - VWF_000025 Functional analysis: rVWF expression in COS-7 cells PubMed: Baronciani et al., 2003; PubMed: Baronciani et al., 2008 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 5 c.422A>G r.(?) EAHAD-CFDB: +? p.(Asp141Gly) - - - g.6219650T>C g.6110484T>C - - VWF_000027 - PubMed: Cumming et al., 2006 - - Germline yes - - - - Daniel J Hampshire
+/+? 2 5 c.449T>A r.(?) EAHAD-CFDB: +? p.(Leu150Gln) - - - g.6219623A>T g.6110457A>T - - VWF_000028 - PubMed: Zhang et al., 1995, 1 more item - - Germline yes - - - - Daniel J Hampshire
+/+?, +?/. 2 5 c.449T>C r.(?) EAHAD-CFDB: +?, EAHAD-CFDB: . p.(Leu150Pro) - - - g.6219623A>G g.6110457A>G - - VWF_000030 - PubMed: Corrales et al., 2009, PubMed: Borràs et al., 2017 - - Unknown ? - - - - Daniel J Hampshire, Irene Corrales Insa
+?/. 1 5 c.478G>A r.(?) EAHAD-CFDB: . p.(Gly160Arg) - - - g.6219594C>T - - - VWF_000828 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/+? 1 5 c.478G>T r.(?) EAHAD-CFDB: +? p.(Gly160Trp) - - - g.6219594C>A g.6110428C>A - - VWF_000032 functional analysis rVWF expression in COS-7 cells PubMed: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009 - - Germline yes - - - - Daniel J Hampshire
+/+? 1 5 c.497A>T r.(?) EAHAD-CFDB: +? p.(Asn166Ile) - - - g.6219575T>A g.6110409T>A - - VWF_000033 functional analysis rVWF expression in COS-7 cells PubMed: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009 - - Germline yes - - - - Daniel J Hampshire
+?/? 1 5_5i c.521_532+3dup r.(spl?) EAHAD-CFDB: ? p.? - - - g.6219537_6219551dup g.6110371_6110385dup - - VWF_000018 - PubMed: Kakela et al., 2006 - - Germline ? - - - - Daniel J Hampshire
-?/. 1 - c.532+17T>C r.(=) likely benign p.(=) - - - g.6219523A>G - VWF(NM_000552.3):c.532+17T>C (p.?) - VWF_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 5i c.533-43A>C r.(=) EAHAD-CFDB: . p.(=) - - - g.6204793T>G - - - VWF_000825 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+?/., +/+? 4 5i c.533-2A>G r.spl?, r.533_657del EAHAD-CFDB: ., EAHAD-CFDB: +? p.?, p.Thr179Profs*31 - - - g.6204752T>C g.6095586T>C - - VWF_000034 functional analysis of RNA from patient platelets & leukocytes PubMed: Borràs et al., 2017, PubMed: Corrales et al., 2011 - - Unknown ? - - - - Irene Corrales Insa, Daniel J Hampshire
+?/., ?/. 3 6 c.546G>A r.(=), r.(?) EAHAD-CFDB: ., VUS p.(Ser182=), p.(=) - - - g.6204737C>T - VWF(NM_000552.3):c.546G>A (p.=) - VWF_000781 VKGL data sharing initiative Nederland PubMed: Borràs et al., 2017 - - Unknown, CLASSIFICATION record ? - - - - Irene Corrales Insa, VKGL-NL
?/. 1 - c.553T>C r.(?) VUS p.(Tyr185His) - - - g.6204730A>G - VWF(NM_000552.3):c.553T>C (p.(Tyr185His)) - VWF_001011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 6 c.652C>T r.(?) EAHAD-CFDB: +? p.(Gln218*) - - - g.6204631G>A g.6095465G>A - - VWF_000036 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
-/. 1 - c.657+11A>C r.(=) benign p.(=) - - - g.6204615T>G - VWF(NM_000552.3):c.657+11A>C (p.?) - VWF_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 7 c.666G>A r.(?) EAHAD-CFDB: +? p.(Trp222*) - - - g.6184709C>T g.6075543C>T - - VWF_000037 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
?/. 1 - c.695C>T r.(?) VUS p.(Ser232Leu) - - - g.6184680G>A - VWF(NM_000552.3):c.695C>T (p.Ser232Leu) - VWF_000780 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 7 c.788_811del r.(?) EAHAD-CFDB: +? p.(Cys263_Glu270del) - - - g.6184564_6184587del g.6075398_6075421del - - VWF_000039 - PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/+? 3 7 c.817C>T r.(?) EAHAD-CFDB: +? p.(Arg273Trp) - - - g.6184558G>A g.6075392G>A - - VWF_000040 functional analysis rVWF expression in COS-7 & HEK293 cells 1 more item - - Germline yes - - - - Daniel J Hampshire
+?/. 1 7 c.818G>C r.(?) EAHAD-CFDB: . p.(Arg273Pro) - - - g.6184557C>G - - - VWF_000878 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/+? 1 7 c.823T>A r.(?) EAHAD-CFDB: +? p.(Cys275Ser) - - - g.6184552A>T g.6075386A>T - - VWF_000038 Functional analysis: rVWF expression in COS-7 cells PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003; PubMed: Baronciani et al., 2008 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 7 c.823T>C r.(?) EAHAD-CFDB: +? p.(Cys275Arg) - - - g.6184552A>G g.6075386A>G - - VWF_000041 Functional analysis: rVWF expression in COS-7 cells PubMed: Baronciani et al., 2007 - - Germline yes - - - - Daniel J Hampshire
+/+? 1 7i c.874+1G>A r.spl? EAHAD-CFDB: +? p.? - - - g.6184500C>T g.6075334C>T - - VWF_000043 - PubMed: Gadisseur et al., 2007 - - Germline yes - - - - Daniel J Hampshire
+/+? 1 8 c.893dup r.(?) EAHAD-CFDB: +? p.(Met299Tyrfs*4) - - - g.6182889dup g.6073723dup - - VWF_000044 - PubMed: Xie et al., 2007 - - Germline yes - - - - Daniel J Hampshire
-/. 2 - c.954T>A r.(?) benign p.(Asn318Lys) - - - g.6182828A>T - VWF(NM_000552.3):c.954T>A (p.N318K) - VWF_000698 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+?/., +/+? 4 8 c.970C>T r.(?) EAHAD-CFDB: ., EAHAD-CFDB: +? p.(Arg324*) - - - g.6182812G>A g.6073646G>A - - VWF_000046 - PubMed: Borràs et al., 2017, PubMed: Schneppenheim et al., 1994 - - Unknown, Germline ?, yes - - - - Irene Corrales Insa, Daniel J Hampshire
+/+? 1 8 c.971G>A r.(?) EAHAD-CFDB: +? p.(Arg324Gln) - - - g.6182811C>T g.6073645C>T - - VWF_000047 functional analysis rVWF expression in COS-7 cells PubMed: Hampshire et al., 2013 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 8 c.988dup r.(?) EAHAD-CFDB: +? p.(Ser330Lysfs*4) - - - g.6182794dup g.6073628dup - - VWF_000048 - Unpublished - - Germline yes - - - - Daniel J Hampshire
?/. 1 8i c.998-46C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6181654G>A - - - VWF_000840 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+?/. 1 9 c.1001G>A r.(?) EAHAD-CFDB: . p.(Gly334Glu) - - - g.6181605C>T - - - VWF_000837 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
-?/. 1 - c.1037C>T r.(?) likely benign p.(Thr346Ile) - - - g.6181569G>A - VWF(NM_000552.3):c.1037C>T (p.T346I) - VWF_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 9 c.1071C>A r.(?) EAHAD-CFDB: +? p.(Tyr357*) - - - g.6181535G>T g.6072369G>T - - VWF_000049 - PubMed: Mazurier et al., 2002; PubMed: Hilbert et al., 2003 - - Germline yes - - - - Daniel J Hampshire
+/+?, +?/. 4 9 c.1093C>T r.(?) EAHAD-CFDB: +?, EAHAD-CFDB: . p.(Arg365*) - - - g.6181513G>A g.6072347G>A - - VWF_000051 - PubMed: Bahnak et al., 1991, PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003, 2 more items - - Germline, Unknown yes, ? - - - - Daniel J Hampshire, Irene Corrales Insa
+?/. 2 9 c.1109G>A r.(?) EAHAD-CFDB: . p.(Cys370Tyr) - - - g.6181497C>T - - - VWF_000805 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/+? 1 9i c.1109+2T>C r.spl? EAHAD-CFDB: +? p.? - - - g.6181495A>G g.6072329A>G - - VWF_000053 - PubMed: Goodeve et al., 2007 - - Germline yes - - - - Daniel J Hampshire
?/. 4 9i c.1110-26T>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6180535A>T - - - VWF_000829 - PubMed: Borràs et al., 2017 - rs202011784 Unknown ? 0.998/0.002 - - - Irene Corrales Insa
-?/., -/. 3 - c.1110-6dup r.(=) likely benign, benign p.(=) - - - g.6180516dup - VWF(NM_000552.3):c.1110-6dupC - VWF_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+? 1 9i c.1110-1G>A r.spl? EAHAD-CFDB: +? p.? - - - g.6180510C>T g.6071344C>T - - VWF_000055 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 10 c.1117C>T r.(?) EAHAD-CFDB: +? p.(Arg373*) - - - g.6180502G>A g.6071336G>A - - VWF_000056 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 10 c.1131G>T r.(?) EAHAD-CFDB: +? p.(Trp377Cys) - - - g.6180488C>A g.6071322C>A - - VWF_000057 - PubMed: Schneppenheim et al., 1994 - - Germline yes - - - - Daniel J Hampshire
+?/. 1 10i c.1156+2T>C r.spl? EAHAD-CFDB: . p.? - - - g.6180461A>G - - - VWF_000817 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 10i c.1156+27C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6180436G>A - - - VWF_000952 - PubMed: Borràs et al., 2017 - rs112753580 Unknown ? 0.998/0.002 - - - Irene Corrales Insa
?/. 1 10i c.1156+42C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6180421G>A - - - VWF_000896 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
-?/. 1 - c.1157-6C>T r.(=) likely benign p.(=) - - - g.6174445G>A - VWF(NM_000552.3):c.1157-6C>T (p.?) - VWF_001007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 10i_32i c.(1156+1_1157-1)_(5620+1_5621-1)del r.? EAHAD-CFDB: . p.? - - - g.(6121297_6122646)_(6174440_6180462)del - - - VWF_000897 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
-/. 2 - c.1173A>T r.(?) benign p.(=) - - - g.6174423T>A - VWF(NM_000552.3):c.1173A>T (p.T391=) - VWF_000696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 2 - c.1182A>C r.(?) benign p.(=) - - - g.6174414T>G - VWF(NM_000552.3):c.1182A>C (p.S394=) - VWF_000695 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/+? 1 11 c.1213_1214insATCCCA r.(?) EAHAD-CFDB: +? p.(Phe404_Thr405insAsnPro) - - - g.6174382_6174383insTGGGAT g.6065216_6065217insTGGGAT - - VWF_000058 functional analysis rVWF expression in COS-7 cells PubMed: Ruggeri et al., 1982; PubMed: Holmberg et al., 1998 - - De novo yes - - - - Daniel J Hampshire
+/+? 1 11 c.1280T>A r.(?) EAHAD-CFDB: +? p.(Ile427Asn) - - - g.6174316A>T g.6065150A>T - - VWF_000059 - Unpublished - - Germline yes - - - - Daniel J Hampshire
?/. 1 11i c.1293+109T>C r.(=) EAHAD-CFDB: . p.(=) - - - g.6174194A>G - - - VWF_000847 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - 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.