VWF c.161_219del ;(p.A54Gfs*20)

Variant ID: 12-6230341-CAATAATCGAGAAGGAGCGTTTCTGGCAGCCCCCTGCCAGGAGGTAACTGCAGTATCCCG-C

NM_000552.3(VWF):c.161_219del;(p.A54Gfs*20)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.

Blood Advances
Cartwright, Ashley A; Webster, Simon J SJ; de Jong, Annika A; Dirven, Richard J RJ; Bloomer, Lisa D S LDS; Al-Buhairan, Ahlam M AM; Budde, Ulrich U; Halldén, Christer C; Habart, David D; Goudemand, Jenny J; Peake, Ian R IR; Eikenboom, Jeroen C J JCJ; Goodeve, Anne C AC; Hampshire, Daniel J DJ
Publication Date: 2020-07-14

Variant appearance in text: VWF: 56_220del; Thr20_Gly74del
PubMed Link: 32609846
Variant Present in the following documents:
  • Main text
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