Variant ID: 1-55529671-C-T

NM_174936.3(PCSK9):c.*414C>T

This variant was identified in 1 publication




Publications:


Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics
I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins
Publication Date: 2015-09-28

Variant appearance in text: rs13376071
PubMed Link: 26415676
Variant Present in the following documents:
  • 12881_2015_230_MOESM1_ESM.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.*414C>T - 3_prime_UTR_variant 12/12 -
ENST00000490692.1 n.3039C>T - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.*414C>T - 3_prime_UTR_variant 12/12 -
NR_110451.1 n.2100C>T - non_coding_transcript_exon_variant 10/10 -
- - TF_binding_site_variant - -