Variant ID: 1-55509649-T-C

NM_174936.3(PCSK9):c.341T>C;(p.Val114Ala)

This variant was identified in 1 publication




Publications:


The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice
NG Seidah
Publication Date: 2017-03-31

Variant appearance in text: PCSK9: V114A
PMID: 28971102
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.341T>C p.Val114Ala missense_variant 2/12 -
ENST00000452118.2 c.341T>C p.Val114Ala missense_variant 2/6 -
ENST00000543384.1 c.-78+3573T>C - intron_variant - 1/9
NM_174936.4 c.341T>C p.Val114Ala missense_variant 2/12 -
NR_110451.1 n.182+3573T>C - intron_variant,non_coding_transcript_variant - 1/9