Variant ID: 1-55517977-CT-AG


This variant was identified in 1 publication


Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
AM Medeiros, AC Alves, M Bourbon
Publication Date: 2016-04

Variant appearance in text: PCSK9: Leu184Ser
PubMed Link: 26020417
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.550_551inv p.Leu184Ser missense_variant 4/12 -
ENST00000452118.2 c.*194_*195inv - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1371_1372inv - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.-51_-50inv - 5_prime_UTR_variant 2/10 -
NM_174936.4 c.550_551inv p.Leu184Ser missense_variant 4/12 -
NR_110451.1 n.209_210inv - non_coding_transcript_exon_variant 2/10 -