Variant ID: 1-55525169-G-A

NM_174936.3(PCSK9):c.1514G>A;(p.Gly505Asp)

This variant was identified in 1 publication




Publications:


Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal Of Internal Medicine
C Maglio, RM Mancina, BM Motta, M Stef, C Pirazzi, L Palacios, N Askaryar, J Borén, O Wiklund, S Romeo
Publication Date: 2014-10

Variant appearance in text: PCSK9: 1514G>A
PubMed Link: 24785115
Variant Present in the following documents:
  • joim0276-0396-sd1.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1514G>A p.Gly505Asp missense_variant 10/12 -
ENST00000490692.1 n.2227+849G>A - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*61G>A - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1514G>A p.Gly505Asp missense_variant 10/12 -
NR_110451.1 n.1121G>A - non_coding_transcript_exon_variant 8/10 -