All transcript variants in gene VWF

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

1223 entries on 13 pages. Showing entries 1 - 100.
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Effect     

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     
?/. _1 c.-1927T>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6235513A>C - - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6235513A>C - - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6235513A>C - - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6235513A>C - - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6235513A>C - - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/? _1 c.-1507C>T r.(=) EAHAD-CFDB: ? p.(=) - - - g.6235093G>A g.6125927G>A - - VWF_000178 - PubMed: James et al., 2007a - - Unknown ? - - 0 - Daniel J Hampshire
?/. _1 c.-1468C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6235054G>A - - - VWF_000932 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1403C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6236213G>A - - - VWF_000852 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1403C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6234989G>A - - - VWF_000852 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
-?/? _1 c.-1391A>G r.(=) EAHAD-CFDB: ? p.(=) - - - g.6234977T>C g.6125811T>C - - VWF_000188 - PubMed: James et al., 2007a - - Unknown ? - - 0 - Daniel J Hampshire
?/? _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 - 0 - Daniel J Hampshire
?/? _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 - 0 - Daniel J Hampshire
-?/? _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 - 0 - Daniel J Hampshire
?/. _1 c.-853A>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6234439T>A - - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-853A>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6234439T>A - - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-853A>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6234439T>A - - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-853A>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6234439T>A - - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-852A>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6234438T>C - - - VWF_000925 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234405G>T - - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234405G>T - - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234405G>T - - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234405G>T - - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234405G>T - - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-672C>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6234258G>A - - - VWF_000939 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-651G>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234237C>T - - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-651G>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234237C>T - - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-651G>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6234237C>T - - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-649A>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6234235T>C - - - VWF_000957 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-426G>C r.(=) EAHAD-CFDB: . p.(=) - - - g.6234012C>G - - - VWF_000918 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. 1 c.-138A>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6233724T>C - - - VWF_000971 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
-?/. - 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
-?/. - 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_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) ? - - 0 - Daniel J Hampshire
+/+? 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 - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 28 c.3789_3797con[NG_001212.4:g.6520_6528] r.(=) EAHAD-CFDB: +? p.[(Ser1263=;Pro1266Leu)] - - - g.6128787_6128795conNC_000022.11:17178924_17178932 - - - VWF_000194 - PubMed: Holmberg et al., 1993 - - Germline yes - - 0 - Daniel J Hampshire
+/+? 28 c.3789_3797con[NG_001212.4:g.6520_6528] r.(?) EAHAD-CFDB: +? p.[(Ser1263=;Pro1266Leu)] - - - g.6128787_6128795conNC_000022.11:17178924_17178932 - - - VWF_000194 - PubMed: Holmberg et al., 1993 - - Unknown ? - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 28 c.3835_4105con[NG_001212.4:g.6566_6836] r.(?) EAHAD-CFDB: +? p.[(Val1279Ile;Gln1311*)] - - - g.6128479_6128749conNC_000022.11:17178616_17178886 - - - VWF_000658 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 28 c.3835_4105con[NG_001212.4:g.6566_6836] r.(?) EAHAD-CFDB: . p.[(Val1279Ile;Gln1311*)] - - - g.6128479_6128749conNC_000022.11:17178616_17178886 - - - VWF_000658 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
-/. - 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 - - - 0 - VKGL-NL
+?/. 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: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009 - - Germline ? - - 0 - Daniel J Hampshire
?/. 2 c.55G>A r.(?) EAHAD-CFDB: . p.(Gly19Arg) - - - g.6232308C>T - - - VWF_000001 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
-/. - 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
?/. 2i c.55+69A>G r.(=) EAHAD-CFDB: . p.(=) - - - g.6232239T>C - - - VWF_000834 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/. 3 c.100C>G r.(?) EAHAD-CFDB: . p.(Arg34Gly) - - - g.6230460G>C g.6121294G>C - - VWF_000002 - PubMed: Hampshire et al., 2013 - - Germline yes - - 0 - Daniel J Hampshire
+/. 3 c.100C>T r.(?) EAHAD-CFDB: . p.(Arg34*) - - - g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 3 c.100C>T r.(?) EAHAD-CFDB: . p.(Arg34*) - - - g.6230460G>A - - - VWF_000003 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 3 c.100C>T r.(?) EAHAD-CFDB: . p.(Arg34*) - - - g.6230460G>A - - - VWF_000003 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
-?/. - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - 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
+/. 3 c.139G>C r.(?) EAHAD-CFDB: . p.(Asp47His) - - - g.6230421C>G g.6121255C>G - - VWF_000004 - PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 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 - - 0 - Daniel J Hampshire
+/. 3 c.171C>A r.(?) EAHAD-CFDB: . p.(Cys57*) - - - g.6230389G>T g.6121223G>T - - VWF_000006 - PubMed: Hampshire et al., 2013 - - Germline yes - - 0 - Daniel J Hampshire
+/. 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 ? - - 0 - Daniel J Hampshire
+/. 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 - - 0 - Daniel J Hampshire
?/. 3i c.220+100G>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6230240C>T - - - VWF_000943 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. 3i c.220+100G>A r.(=) EAHAD-CFDB: . p.(=) - - - g.6230240C>T - - - VWF_000943 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. 3i c.221-70G>T r.(=) EAHAD-CFDB: . p.(=) - - - g.6220204C>A - - - VWF_000827 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/+ 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 - - 0 - Daniel J Hampshire
+?/. 4 c.246_247insT r.(?) EAHAD-CFDB: . p.(Ser83*) - - - g.6220108_6220109insA - - - VWF_000835 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 4 c.250C>T r.(?) EAHAD-CFDB: . p.(Leu84Phe) - - - g.6220105G>A - - - VWF_000907 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. - c.250C>T r.(?) VUS p.(Leu84Phe) - - - g.6220105G>A - VWF(NM_000552.3):c.250C>T (p.(Leu84Phe)) - VWF_000907 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 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 ? - - 0 - Daniel J Hampshire
+/. 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 - - 0 - Daniel J Hampshire
+/. 4 c.276del r.(?) EAHAD-CFDB: . p.(Phe92Leufs*11) - - - g.6220079del g.6110913del - - VWF_000013 - PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - Daniel J Hampshire
+/. 4 c.276dup r.(?) EAHAD-CFDB: . p.(Asp93*) - - - g.6220079dup g.6110913dup - - VWF_000015 - PubMed: Jorieux et al., 2000 - - Germline yes - - 0 - Daniel J Hampshire
+?/. 4i_5 c.324-2_326dup r.spl? EAHAD-CFDB: . p.? - - - g.6219746_6219750dup - - - VWF_000849 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/? 5 c.374_387del r.(?) EAHAD-CFDB: ? p.(Gly125Valfs*3) - - - g.6219685_6219698del g.6110519_6110532del - - VWF_000017 - PubMed: Kakela et al., 2006 - - Germline ? - - 0 - Daniel J Hampshire
+?/+? 5 c.375_376delinsC r.(?) EAHAD-CFDB: +? p.(Tyr126Thrfs*49) - - - g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 5 c.375_376delinsC r.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - g.6219696_6219697delinsG - - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - g.6219696_6219697delinsG - - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - g.6219696_6219697delinsG - - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - g.6219696_6219697delinsG - - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - g.6219696_6219697delinsG - - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - g.6219696_6219697delinsG - - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/+? 5 c.385C>A r.(?) EAHAD-CFDB: ? p.(Leu129Met) - - - g.6219687G>T g.6110521G>T - - VWF_000022 - PubMed: James et al., 2007a - - Unknown ? - - 0 - Daniel J Hampshire
-/. - 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
+/+? 5 c.421G>A r.(?) EAHAD-CFDB: +? p.(Asp141Asn) - - - g.6219651C>T g.6110485C>T - - VWF_000024 - PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 5 c.422A>G r.(?) EAHAD-CFDB: +? p.(Asp141Gly) - - - g.6219650T>C g.6110484T>C - - VWF_000027 - PubMed: Cumming et al., 2006 - - Germline yes - - 0 - Daniel J Hampshire
+/+? 5 c.449T>A r.(?) EAHAD-CFDB: +? p.(Leu150Gln) - - - g.6219623A>T g.6110457A>T - - VWF_000028 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994; PubMed: Zhang et al., 1995 - - Germline yes - - 0 - Daniel J Hampshire
+/+? 5 c.449T>A r.(?) EAHAD-CFDB: +? p.(Leu150Gln) - - - g.6219623A>T g.6110457A>T - - VWF_000028 - PubMed: Zhang et al., 1995 - - Germline yes - - 0 - Daniel J Hampshire
+/+? 5 c.449T>C r.(?) EAHAD-CFDB: +? p.(Leu150Pro) - - - g.6219623A>G g.6110457A>G - - VWF_000030 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 5 c.449T>C r.(?) EAHAD-CFDB: . p.(Leu150Pro) - - - g.6219623A>G - - - VWF_000030 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.478G>A r.(?) EAHAD-CFDB: . p.(Gly160Arg) - - - g.6219594C>T - - - VWF_000828 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/+? 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 - - 0 - Daniel J Hampshire
+/+? 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 - - 0 - Daniel J Hampshire
+?/? 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 ? - - 0 - Daniel J Hampshire
-?/. - 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
?/. 5i c.533-43A>C r.(=) EAHAD-CFDB: . p.(=) - - - g.6204793T>G - - - VWF_000825 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. 5i c.533-43A>C r.(=) EAHAD-CFDB: . p.(=) - - - g.6204793T>G - - - VWF_000825 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/+? 5i c.533-2A>G r.533_657del EAHAD-CFDB: +? p.Thr179Profs*31 - - - g.6204752T>C g.6095586T>C - - VWF_000034 functional analysis of RNA from patient platelets & leukocytes PubMed: Corrales et al., 2011 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 5i c.533-2A>G r.spl? EAHAD-CFDB: . p.? - - - g.6204752T>C - - - VWF_000034 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - 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.