Variant ID: 1-55505565-CT-GA

NM_174936.3(PCSK9):c.55_56delinsGA;(p.Leu19Glu)

This variant was identified in 2 publications




Publications:


Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
A Schrader, G Crispatzu, S Oberbeck, P Mayer, S Pützer, J von Jan, E Vasyutina, K Warner, N Weit, N Pflug, T Braun, EI Andersson, B Yadav, A Riabinska, B Maurer, MS Ventura Ferreira, F Beier, J Altmüller, M Lanasa, CD Herling, T Haferlach, S Stilgenbauer, G Hopfinger, M Peifer, TH Brümmendorf, P Nürnberg, KSJ Elenitoba-Johnson, S Zha, M Hallek, R Moriggl, HC Reinhardt, MH Stern, S Mustjoki, S Newrzela, P Frommolt, M Herling
Publication Date: 2018-02-15

Variant appearance in text: FH3: L19e
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM7_ESM.xlsx
View BVdb publication page



Genomic Analyses of Cladophialophora bantiana, a Major Cause of Cerebral Phaeohyphomycosis Provides Insight into Its Lifestyle, Virulence and Adaption in Host.

Plos One
CS Kuan, CY Cham, G Singh, SM Yew, YC Tan, PS Chong, YF Toh, N Atiya, SL Na, KW Lee, CC Hoh, WY Yee, KP Ng
Publication Date: 2016

Variant appearance in text: FH3: L19e
PubMed Link: 27570972
Variant Present in the following documents:
  • pone.0161008.s008.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.55_56delinsGA p.Leu19Glu missense_variant 1/12 -
ENST00000452118.2 c.55_56delinsGA p.Leu19Glu missense_variant 1/6 -
NM_174936.4 c.55_56delinsGA p.Leu19Glu missense_variant 1/12 -
- - TF_binding_site_variant - -