VWF c.4453G>C ;(p.V1485L)

Variant ID: 12-6128131-C-G

NM_000552.3(VWF):c.4453G>C;(p.V1485L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: VWF: 4453G>C; Val1485Leu
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 19
  • pone.0210079.s007.xlsx, sheet 4
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Single-cell RNA-seq enables comprehensive tumour and immune cell profiling in primary breast cancer.

Nature Communications
Chung, Woosung W; Eum, Hye Hyeon HH; Lee, Hae-Ock HO; Lee, Kyung-Min KM; Lee, Han-Byoel HB; Kim, Kyu-Tae KT; Ryu, Han Suk HS; Kim, Sangmin S; Lee, Jeong Eon JE; Park, Yeon Hee YH; Kan, Zhengyan Z; Han, Wonshik W; Park, Woong-Yang WY
Publication Date: 2017-05-05

Variant appearance in text: VWF: 4453G>C; V1485L
PubMed Link: 28474673
Variant Present in the following documents:
  • ncomms15081-s2.xlsx, sheet 1
View BVdb publication page



Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.

Blood
Johnsen, Jill M JM; Auer, Paul L PL; Morrison, Alanna C AC; Jiao, Shuo S; Wei, Peng P; Haessler, Jeffrey J; Fox, Keolu K; McGee, Sean R SR; Smith, Joshua D JD; Carlson, Christopher S CS; Smith, Nicholas N; Boerwinkle, Eric E; Kooperberg, Charles C; Nickerson, Deborah A DA; Rich, Stephen S SS; Green, David D; Peters, Ulrike U; Cushman, Mary M; Reiner, Alex P AP; ,
Publication Date: 2013-07-25

Variant appearance in text: VWF: Val1485Leu
PubMed Link: 23690449
Variant Present in the following documents:
  • Main text
View BVdb publication page