Variant ID: 1-55512319-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: 523G>A; Asp175Asn
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.523G>A p.Asp175Asn missense_variant,splice_region_variant 3/12 -
ENST00000452118.2 c.523G>A p.Ala175Thr missense_variant,splice_region_variant 3/6 -
ENST00000543384.1 c.-77-5632G>A - intron_variant - 1/9
NM_174936.4 c.523G>A p.Asp175Asn missense_variant,splice_region_variant 3/12 -
NR_110451.1 n.183-5632G>A - intron_variant,non_coding_transcript_variant - 1/9