Variant ID: 1-55512260-C-T


This variant was identified in 1 publication


The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: PCSK9: P155L
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
  • mmc1.docx
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.464C>T p.Pro155Leu missense_variant 3/12 -
ENST00000452118.2 c.464C>T p.Pro155Leu missense_variant 3/6 -
ENST00000543384.1 c.-77-5691C>T - intron_variant - 1/9
NM_174936.4 c.464C>T p.Pro155Leu missense_variant 3/12 -
NR_110451.1 n.183-5691C>T - intron_variant,non_coding_transcript_variant - 1/9