Variant ID: 1-55505718-G-A


This variant was identified in 1 publication


Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

SB Foley, JJ Rios, VE Mgbemena, LS Robinson, HL Hampel, AE Toland, L Durham, TS Ross
Publication Date: 2015-01

Variant appearance in text: PCSK9: 207+1G>A
PubMed Link: 26023681
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.207+1G>A - splice_donor_variant - 1/11
ENST00000452118.2 c.207+1G>A - splice_donor_variant - 1/5
NM_174936.4 c.207+1G>A - splice_donor_variant - 1/11