Variant ID: 1-55529108-GT-CG

NM_174936.3(PCSK9):c.1930_1931delinsCG;(p.Val644Arg)

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: V644R
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.1930_1931delinsCG p.Val644Arg missense_variant 12/12 -
ENST00000490692.1 n.2476_2477delinsCG - non_coding_transcript_exon_variant 8/8 -
ENST00000543384.1 c.*477_*478delinsCG - 3_prime_UTR_variant 10/10 -
NM_174936.4 c.1930_1931delinsCG p.Val644Arg missense_variant 12/12 -
NR_110451.1 n.1537_1538delinsCG - non_coding_transcript_exon_variant 10/10 -