Variant ID: 1-230814797-A-G

NM_007357.2(COG2):c.1165A>G;(p.Arg389Gly)

This variant was identified in 1 publication




Publications:


Pharmacogenetics of cardiovascular drug therapy.

Clinical Cases In Mineral And Bone Metabolism : The Official Journal Of The Italian Society Of Osteoporosis, Mineral Metabolism, And Skeletal Diseases
BJ Peters, OH Klungel, A de Boer, BH Ch Stricker, AH Maitland-van der Zee
Publication Date: 2009-01

Variant appearance in text: LDLC: Arg389Gly
PubMed Link: 22461099
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.1165A>G p.Arg389Gly missense_variant,splice_region_variant 10/18 -
ENST00000366669.4 c.1165A>G p.Arg389Gly missense_variant,splice_region_variant 10/18 -
ENST00000468893.2 c.*1023A>G - splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant 11/19 -
ENST00000494371.1 n.3459A>G - non_coding_transcript_exon_variant 10/10 -
ENST00000534989.1 c.988A>G p.Arg330Gly missense_variant,splice_region_variant 10/18 -
ENST00000535166.1 c.817A>G p.Arg273Gly missense_variant,splice_region_variant 11/19 -
ENST00000546013.1 c.232A>G p.Arg78Gly missense_variant,splice_region_variant 2/10 -
NM_001145036.2 c.1165A>G p.Arg389Gly missense_variant,splice_region_variant 10/18 -
NM_007357.3 c.1165A>G p.Arg389Gly missense_variant,splice_region_variant 10/18 -