Variant ID: 1-55518020-G-A


This variant was identified in 1 publication


Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.

A Rimbert, M Pichelin, S Lecointe, M Marrec, S Le Scouarnec, E Barrak, M Croyal, M Krempf, H Le Marec, R Redon, JJ Schott, J Magré, B Cariou
Publication Date: 2016-07

Variant appearance in text: PCSK9: 593G>A
PubMed Link: 27179706
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.593G>A p.Gly198Asp missense_variant 4/12 -
ENST00000452118.2 c.*237G>A - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1414G>A - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.-8G>A - 5_prime_UTR_variant 2/10 -
NM_174936.4 c.593G>A p.Gly198Asp missense_variant 4/12 -
NR_110451.1 n.252G>A - non_coding_transcript_exon_variant 2/10 -