Variant ID: 1-55527216-C-A


This variant was identified in 2 publications


The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
R Mehta, R Zubirán, AJ Martagón, A Vazquez-Cárdenas, Y Segura-Kato, MT Tusié-Luna, CA Aguilar-Salinas
Publication Date: 2016-12

Variant appearance in text: PCSK9: 1850C>A; Ala617Asp
PMID: 27777316
View BVdb publication page

Role of genetic changes in the progression of cardiovascular diseases.

International Journal Of Biomedical Science : Ijbs
SA Sheweita, H Baghdadi, AR Allam
Publication Date: 2011-12

Variant appearance in text: PCSK9: 1850C>A; Ala617Asp
PMID: 23675242
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1850C>A p.Ala617Asp missense_variant 11/12 -
ENST00000490692.1 n.2396C>A - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*397C>A - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1850C>A p.Ala617Asp missense_variant 11/12 -
NR_110451.1 n.1457C>A - non_coding_transcript_exon_variant 9/10 -