Variant ID: 1-55509595-G-T

NM_174936.3(PCSK9):c.287G>T;(p.Arg96Leu)

This variant was identified in 1 publication




Publications:


PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: PCSK9: R96L
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.287G>T p.Arg96Leu missense_variant 2/12 -
ENST00000452118.2 c.287G>T p.Arg96Leu missense_variant 2/6 -
ENST00000543384.1 c.-78+3519G>T - intron_variant - 1/9
NM_174936.4 c.287G>T p.Arg96Leu missense_variant 2/12 -
NR_110451.1 n.182+3519G>T - intron_variant,non_coding_transcript_variant - 1/9