Table 4.

Selected VWF Pathogenic Variants

VWD Type 1DNA Nucleotide ChangePredicted Protein ChangeVWF ExonReference Sequences
1c.3614G>Ap.Arg1205His27 NM_000552​.3
NP_000543​.2
1c.4751A>Gp.Tyr1584Cys28
2Ac.4517C>Tp.Ser1506Leu28
2Ac.4789C>Tp.Arg1597Trp28
2Bc.3797C>Tp.Pro1266Leu28
2Bc.3797C>Ap.Pro1266Glu28
2Bc.3916C>Tp.Arg1306Trp28
2Bc.3923G>Tp.Arg1308Leu28
2Bc.3946G>Ap.Val1316Met28
2Bc.4022G>Ap.Arg1341Gln28
2Bc.4135C>Tp.Arg1379Cys28
2Mc.3835G>Ap.Val1279Ile28
2Mc.4273A>Tp.Ile1425Phe28
2Nc.2372C>Tp.Thr791Met18
2Nc.2446C>Tp.Arg816Trp19
2Nc.2561G>Ap.Arg854Gln20
3c.2435delCp.Pro812ArgfsTer3118
3c.4975C>Tp.Arg1659Ter28
3c.7603C>Tp.Arg2535Ter45

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Examples of the most frequent variants identified in each VWD type are shown. See EAHAD VWF Database for further information on allelic variants and frequencies.

From: von Willebrand Disease

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