Variant ID: 1-55523835-T-C


This variant was identified in 1 publication


Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
M Alver, M Palover, A Saar, K Läll, SM Zekavat, N Tõnisson, L Leitsalu, A Reigo, T Nikopensius, T Ainla, M Kals, R Mägi, SB Gabriel, J Eha, ES Lander, A Irs, A Philippakis, T Marandi, P Natarajan, A Metspalu, S Kathiresan, T Esko
Publication Date: 2019-05

Variant appearance in text: PCSK9: 1307T>C
PubMed Link: 30270359
Variant Present in the following documents:
  • 41436_2018_311_MOESM6_ESM.pdf
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1307T>C p.Leu436Pro missense_variant 8/12 -
ENST00000490692.1 n.2031T>C - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.702+5T>C - splice_region_variant,intron_variant - 6/9
NM_174936.4 c.1307T>C p.Leu436Pro missense_variant 8/12 -
NR_110451.1 n.961+5T>C - splice_region_variant,intron_variant,non_coding_transcript_variant - 6/9