Variant ID: 1-55523166-C-T


This variant was identified in 1 publication


SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.

Clinics (Sao Paulo, Brazil)
AM Lerario, DR Mohan, LR Montenegro, MFA Funari, MY Nishi, AM Narcizo, AFF Benedetti, SM Oba-Shinjo, AJ Vitorino, RASXD Santos, AAL Jorge, LF Onuchic, SKN Marie, BB Mendonca
Publication Date: 2020

Variant appearance in text: PCSK9: Gln387X
PubMed Link: 32785571
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1159C>T p.Gln387* stop_gained 7/12 -
ENST00000490692.1 n.1883C>T - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.559C>T p.Gln187* stop_gained 5/10 -
NM_174936.4 c.1159C>T p.Gln387* stop_gained 7/12 -
NR_110451.1 n.818C>T - non_coding_transcript_exon_variant 5/10 -