Variant ID: 1-55521681-G-A

NM_174936.3(PCSK9):c.815G>A;(p.Arg272Gln)

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: R272Q
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.815G>A p.Arg272Gln missense_variant 6/12 -
ENST00000490692.1 n.1636G>A - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.215G>A p.Arg72Gln missense_variant 4/10 -
NM_174936.4 c.815G>A p.Arg272Gln missense_variant 6/12 -
NR_110451.1 n.474G>A - non_coding_transcript_exon_variant 4/10 -