Variant ID: 1-55527104-AG-TA

NM_174936.3(PCSK9):c.1738_1739delinsTA;(p.Arg580*)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting.

Advances In Therapy
M Mahzari, H Zarif
Publication Date: 2021-04-07

Variant appearance in text: PCSK9: Arg580*
PubMed Link: 33829367
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1738_1739delinsTA p.Arg580* stop_gained 11/12 -
ENST00000490692.1 n.2284_2285delinsTA - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*285_*286delinsTA - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1738_1739delinsTA p.Arg580* stop_gained 11/12 -
NR_110451.1 n.1345_1346delinsTA - non_coding_transcript_exon_variant 9/10 -