Variant ID: 1-55508286-G-A

NM_174936.3(PCSK9):c.208-1230G>A

This variant was identified in 1 publication




Publications:


Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population.

Journal Of Human Genetics
L Alex, JK Chahil, SH Lye, P Bagali, LW Ler
Publication Date: 2012-06

Variant appearance in text: rs6658758
PubMed Link: 22534770
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.208-1230G>A - intron_variant - 1/11
ENST00000452118.2 c.208-1230G>A - intron_variant - 1/5
ENST00000543384.1 c.-78+2210G>A - intron_variant - 1/9
NM_174936.4 c.208-1230G>A - intron_variant - 1/11
NR_110451.1 n.182+2210G>A - intron_variant,non_coding_transcript_variant - 1/9