Variant ID: 19-8434123-G-C


This variant was identified in 4 publications


Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
Publication Date: 2019-02

Variant appearance in text: ANGPTL4: Glu190Gln
PubMed Link: 30779729
Variant Present in the following documents:
  • Main text
View BVdb publication page

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nature Genetics
OL Holmen, H Zhang, Y Fan, DH Hovelson, EM Schmidt, W Zhou, Y Guo, J Zhang, A Langhammer, ML Løchen, SK Ganesh, L Vatten, F Skorpen, H Dalen, J Zhang, S Pennathur, J Chen, C Platou, EB Mathiesen, T Wilsgaard, I Njølstad, M Boehnke, YE Chen, GR Abecasis, K Hveem, CJ Willer
Publication Date: 2014-04

Variant appearance in text: ANGPTL4: Glu190Gln
PubMed Link: 24633158
Variant Present in the following documents:
  • NIHMS570373-supplement-1.pdf
View BVdb publication page

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
JM Seddon, Y Yu, EC Miller, R Reynolds, PL Tan, S Gowrisankar, JI Goldstein, M Triebwasser, HE Anderson, J Zerbib, D Kavanagh, E Souied, N Katsanis, MJ Daly, JP Atkinson, S Raychaudhuri
Publication Date: 2013-11

Variant appearance in text: rs77938377
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx
View BVdb publication page

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

Nature Genetics
S Romeo, LA Pennacchio, Y Fu, E Boerwinkle, A Tybjaerg-Hansen, HH Hobbs, JC Cohen
Publication Date: 2007-04

Variant appearance in text: ANGPTL4: E190Q
PubMed Link: 17322881
Variant Present in the following documents:
  • NIHMS113122-supplement-S5.pdf
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000301455.2 c.568G>C p.Glu190Gln missense_variant 4/7 -
ENST00000393962.2 c.548-1817G>C - intron_variant - 3/5
ENST00000541807.1 c.67G>C p.Glu23Gln missense_variant 5/8 -
ENST00000593998.1 c.568G>C p.Glu190Gln missense_variant,NMD_transcript_variant 4/8 -
ENST00000594348.1 n.721G>C - non_coding_transcript_exon_variant 4/5 -
ENST00000594875.1 c.353+3175G>C - intron_variant - 2/2
ENST00000595079.1 c.*111G>C - 3_prime_UTR_variant,NMD_transcript_variant 5/8 -
ENST00000597137.1 n.314G>C - non_coding_transcript_exon_variant 4/5 -
ENST00000598255.1 n.704-1817G>C - intron_variant,non_coding_transcript_variant - 3/3
NM_001039667.3 c.548-1817G>C - intron_variant - 3/5
NM_139314.3 c.568G>C p.Glu190Gln missense_variant 4/7 -
NR_104213.2 n.596+3175G>C - intron_variant,non_coding_transcript_variant - 2/2