Variant ID: 20-17329725-C-A

NM_002594.3(PCSK2):c.283-9247C>A

This variant was identified in 2 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.

Bmc Medical Genetics
PS Graham, G Kaidonis, S Abhary, MC Gillies, M Daniell, RW Essex, JH Chang, SR Lake, B Pal, AJ Jenkins, AW Hewitt, EL Lamoureux, PG Hykin, N Petrovsky, MA Brown, JE Craig, KP Burdon
Publication Date: 2018-05-08

Variant appearance in text: rs737141
PubMed Link: 29739359
Variant Present in the following documents:
  • Main text
View BVdb publication page


Genome-wide meta-analysis for severe diabetic retinopathy.

Human Molecular Genetics
MA Grassi, A Tikhomirov, S Ramalingam, JE Below, NJ Cox, DL Nicolae
Publication Date: 2011-06-15

Variant appearance in text: rs737141
PubMed Link: 21441570
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000262545.2 c.283-9247C>A - intron_variant - 2/11
ENST00000377899.1 c.226-9247C>A - intron_variant - 3/12
ENST00000470007.1 n.278-9247C>A - intron_variant,non_coding_transcript_variant - 2/5
ENST00000536609.1 c.178-9247C>A - intron_variant - 1/10
NM_001201528.1 c.226-9247C>A - intron_variant - 3/12
NM_001201529.3 c.178-9247C>A - intron_variant - 1/10
NM_002594.5 c.283-9247C>A - intron_variant - 2/11