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VWF c.6424C>T ;(p.L2142F)
Variant ID: 12-6103202-G-A
NM_000552.3(
VWF
):c.6424C>T;(p.L2142F)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023
Variant appearance in text: VWF: 6424C>T; Leu2142Phe
PubMed Link:
36923788
Variant Present in the following documents:
Table3.xlsx, sheet 1
View BVdb publication page
Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.
Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14
Variant appearance in text: VWF: 6424C>T; Leu2142Phe; rs190741083
PubMed Link:
34521849
Variant Present in the following documents:
41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
41467_2021_25787_MOESM10_ESM.xlsx, sheet 7
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: VWF: 6424C>T; Leu2142Phe; rs190741083
PubMed Link:
30319441
Variant Present in the following documents:
Table_7.xlsx, sheet 1
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs190741083
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.
Journal Of Thrombosis And Haemostasis : Jth
Wang, Q Y QY; Song, J J; Gibbs, R A RA; Boerwinkle, E E; Dong, J F JF; Yu, F L FL
Publication Date: 2013-02
Variant appearance in text: VWF: L2142F
PubMed Link:
23216583
Variant Present in the following documents:
Main text
View BVdb publication page