Variant ID: 1-55523849-GTG-ATC

NM_174936.3(PCSK9):c.1321_1323delinsATC;(p.Val441Ile)

This variant was identified in 1 publication




Publications:


The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
L Jiang, LY Sun, YF Dai, SW Yang, F Zhang, LY Wang
Publication Date: 2015-11-26

Variant appearance in text: PCSK9: V441I
PubMed Link: 26608663
Variant Present in the following documents:
  • srep17272-s1.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1321_1323delinsATC p.Val441Ile missense_variant 8/12 -
ENST00000490692.1 n.2045_2047delinsATC - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.702+19_702+21delinsATC - intron_variant - 6/9
NM_174936.4 c.1321_1323delinsATC p.Val441Ile missense_variant 8/12 -
NR_110451.1 n.961+19_961+21delinsATC - intron_variant,non_coding_transcript_variant - 6/9