Variant ID: 1-55505520-G-T

NM_174936.3(PCSK9):c.10G>T;(p.Val4Phe)

This variant was identified in 2 publications




Publications:


Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
E Olfson, CE Cottrell, NO Davidson, CA Gurnett, JW Heusel, NO Stitziel, LS Chen, S Hartz, R Nagarajan, NL Saccone, LJ Bierut
Publication Date: 2015

Variant appearance in text: rs186669805
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls
View BVdb publication page



Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Genome Medicine
A Patwardhan, J Harris, N Leng, G Bartha, DM Church, S Luo, C Haudenschild, M Pratt, J Zook, M Salit, J Tirch, M Morra, S Chervitz, M Li, M Clark, S Garcia, G Chandratillake, S Kirk, E Ashley, M Snyder, R Altman, C Bustamante, AJ Butte, J West, R Chen
Publication Date: 2015

Variant appearance in text: rs186669805
PubMed Link: 26269718
Variant Present in the following documents:
  • 13073_2015_197_MOESM8_ESM.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.10G>T p.Val4Phe missense_variant 1/12 -
ENST00000452118.2 c.10G>T p.Val4Phe missense_variant 1/6 -
NM_174936.4 c.10G>T p.Val4Phe missense_variant 1/12 -