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Gene

VWF

von Willebrand factor

Summary

Cytogenetic location
12p13.31
Coordinates
Chromosome 12: 5,948,877–6,124,670 (GRCh38)
Exons
52 exons across 175.8 kb
Protein
2,813 amino acids
Previous symbols
F8VWF
MANE Select transcript
ENST00000261405.10NM_000552.5
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hereditary Von Willebrand Disease

    • Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Type 1: desmopressin (DDAVP); type 2A: DDAVP trial or VWF concentrate; type 2B: VWF concentrate (DDAVP contraindicated); type 2M: DDAVP trial; type 2N: VWF/FVIII concentrate; type 3: VWF/FVIII concentrate; tranexamic acid for mucosal bleeding

How VWF is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 12, with a bracket where VWF sits. VWF and 12 genes near it on chromosome 12, from 5,536,774 to 6,536,773.Chromosome 1212p13.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.335.6 Mb5.8 Mb6 Mb6.2 Mb6.4 MbANO2: 5,531,869–5,946,232, reverse strandANO2VWF: 5,948,877–6,124,670, reverse strandVWFCD9: 6,199,715–6,238,271, forward strandCD9PLEKHG6: 6,310,167–6,328,934, forward strandPLEKHG6TNFRSF1A: 6,328,757–6,342,114, reverse strandTNFRSF1ASCNN1A: 6,345,124–6,383,917, reverse strandSCNN1ALTBR: 6,375,045–6,391,571, forward strandLTBRCD27: 6,444,933–6,451,718, forward strandCD27TAPBPL: 6,451,690–6,466,517, forward strandTAPBPLVAMP1: 6,462,237–6,470,948, reverse strandVAMP1MRPL51: 6,490,204–6,493,856, reverse strandMRPL51NCAPD2: 6,493,356–6,531,970, forward strandNCAPD2GAPDH: 6,534,012–6,538,930, forward strandGAPDHDiagram of VWF: 52 exons on the reverse strand of chromosome 12Exon 52: 3 known disease-causing sitesExon 49: 1 known disease-causing siteExon 47: 5 known disease-causing sitesExon 46: 1 known disease-causing siteExon 45: 4 known disease-causing sitesExon 44: 4 known disease-causing sitesExon 43: 7 known disease-causing sitesExon 42: 3 known disease-causing sitesExon 41: 2 known disease-causing sitesExon 40: 3 known disease-causing sitesExon 39: 1 known disease-causing siteExon 38: 5 known disease-causing sitesExon 37: 4 known disease-causing sitesExon 36: 1 known disease-causing siteExon 34: 2 known disease-causing sitesExon 32: 3 known disease-causing sitesExon 31: 6 known disease-causing sitesExon 30: 2 known disease-causing sitesExon 29: 3 known disease-causing sitesExon 28: 91 known disease-causing sitesExon 27: 5 known disease-causing sitesExon 26: 6 known disease-causing sitesExon 25: 3 known disease-causing sitesExon 24: 7 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 20: 7 known disease-causing sitesExon 19: 4 known disease-causing sitesExon 18: 7 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 16: 7 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 13: 1 known disease-causing siteExon 12: 3 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 4 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 52: 5,948,877–5,949,203, 327 bases. 2 variants with a page in exon 52. List themExon 51: 5,949,786–5,949,883, 98 basesExon 50: 5,951,844–5,951,883, 40 basesExon 49: 5,952,391–5,952,519, 129 basesExon 48: 5,953,496–5,953,594, 99 basesExon 47: 5,967,486–5,967,602, 117 basesExon 46: 5,968,127–5,968,167, 41 basesExon 45: 5,969,211–5,969,391, 181 basesExon 44: 5,971,599–5,971,709, 111 basesExon 43: 5,976,111–5,976,260, 150 basesExon 42: 5,981,786–5,981,991, 206 basesExon 41: 5,983,150–5,983,254, 105 basesExon 40: 5,985,045–5,985,119, 75 basesExon 39: 5,985,563–5,985,665, 103 basesExon 38: 5,991,819–5,992,018, 200 basesExon 37: 5,993,862–5,994,203, 342 basesExon 36: 5,994,415–5,994,607, 193 basesExon 35: 5,996,002–5,996,222, 221 basesExon 34: 6,011,617–6,011,794, 178 basesExon 33: 6,012,087–6,012,130, 44 basesExon 32: 6,013,481–6,013,645, 165 basesExon 31: 6,016,089–6,016,232, 144 bases. 1 variant with a page in exon 31. List themExon 30: 6,016,516–6,016,656, 141 bases. 1 variant with a page in exon 30. List themExon 29: 6,016,754–6,016,870, 117 basesExon 28: 6,018,365–6,019,743, 1,379 bases. 37 variants with a page in exon 28. List themExon 27: 6,021,900–6,022,035, 136 bases. 3 variants with a page in exon 27. List themExon 26: 6,022,740–6,022,898, 159 bases. 2 variants with a page in exon 26. List themExon 25: 6,023,631–6,023,787, 157 basesExon 24: 6,025,580–6,025,693, 114 bases. 1 variant with a page in exon 24. List themExon 23: 6,025,906–6,026,046, 141 basesExon 22: 6,029,342–6,029,488, 147 basesExon 21: 6,031,444–6,031,578, 135 basesExon 20: 6,034,688–6,034,826, 139 bases. 3 variants with a page in exon 20. List themExon 19: 6,036,388–6,036,491, 104 bases. 2 variants with a page in exon 19. List themExon 18: 6,044,291–6,044,451, 161 bases. 3 variants with a page in exon 18. List themExon 17: 6,046,723–6,046,817, 95 bases. 1 variant with a page in exon 17. List themExon 16: 6,052,543–6,052,783, 241 basesExon 15: 6,056,857–6,057,072, 216 basesExon 14: 6,057,849–6,058,044, 196 bases. 1 variant with a page in exon 14. List themExon 13: 6,062,954–6,063,054, 101 basesExon 12: 6,064,246–6,064,384, 139 basesExon 11: 6,065,137–6,065,273, 137 bases. 1 variant with a page in exon 11. List themExon 10: 6,071,297–6,071,343, 47 basesExon 9: 6,072,331–6,072,442, 112 basesExon 8: 6,073,619–6,073,741, 123 bases. 1 variant with a page in exon 8. List themExon 7: 6,075,335–6,075,551, 217 basesExon 6: 6,095,460–6,095,584, 125 basesExon 5: 6,110,374–6,110,582, 209 basesExon 4: 6,110,866–6,110,968, 103 basesExon 3: 6,121,174–6,121,338, 165 basesExon 2: 6,123,142–6,123,196, 55 basesExon 1: 6,124,421–6,124,670, 250 bases52402015′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 8.8 kb of the gene's 175.8 kb; 8,442 of those bases code for the protein.

How a genome test reads VWF

265

positions in VWF where ClinVar classes a change as pathogenic or likely pathogenic

137 of them (52%) fall in regions short reads find hard.

  • Low mappability (102 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (137 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 175.8 kb of VWF, introns included, not only the 8.8 kb of exons.

Variants with a page (59)

The VWF variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
c.4885G>CExon 286,018,533Pathogenic3 stars out of 4 reviewed by expert panel
C804Fc.2411G>TExon 186,044,322Likely pathogenic3 stars out of 4 reviewed by expert panel
C849Yc.2546G>AExon 196,036,388Likely pathogenic3 stars out of 4 reviewed by expert panel
C1060Rc.3178T>CExon 246,025,624Pathogenic3 stars out of 4 reviewed by expert panel
C1149Rc.3445T>CExon 266,022,833Pathogenic3 stars out of 4 reviewed by expert panel
C1190Fc.3569G>TExon 276,022,005Likely pathogenic3 stars out of 4 reviewed by expert panel
C1190Rc.3568T>CExon 276,022,006Pathogenic3 stars out of 4 reviewed by expert panel
C1190Yc.3569G>AExon 276,022,005Pathogenic3 stars out of 4 reviewed by expert panel
C2773Rc.8317T>CExon 525,949,140Pathogenic3 stars out of 4 reviewed by expert panel
C2773Sc.8318G>CExon 525,949,139Pathogenic3 stars out of 4 reviewed by expert panel

See all 59 VWF variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). VWF gene: von Willebrand factor. Retrieved 17 October 2026, from https://dantelabs.com/genes/vwf

Vancouver

Dante Labs. VWF gene: von Willebrand factor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/vwf

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