Variant ID: 8-108270037-C-A

NM_001146.3(ANGPT1):c.1337-5794G>T

This variant was identified in 3 publications



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

Publications:

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

Nature Communications
H Choquet, S Paylakhi, SC Kneeland, KK Thai, TJ Hoffmann, J Yin, MN Kvale, Y Banda, NG Tolman, PA Williams, C Schaefer, RB Melles, N Risch, SWM John, KS Nair, E Jorgenson
Publication Date: 2018-06-11

Variant appearance in text: rs2507802
PubMed Link: 29891935
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_4555_MOESM1_ESM.xlsx
View BVdb publication page


Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients.

Plos One
I Makhoul, VK Todorova, ER Siegel, SW Erickson, I Dhakal, VR Raj, JY Lee, MS Orloff, RJ Griffin, RS Henry-Tillman, S Klimberg, LF Hutchins, SA Kadlubar
Publication Date: 2017

Variant appearance in text: rs2507802
PubMed Link: 28045923
PubMed Central Link
Variant Present in the following documents:
  • pone.0168550.s011.xlsx
  • pone.0168550.s006.xlsx
  • pone.0168550.s007.xlsx
  • pone.0168550.s004.xlsx
  • pone.0168550.s009.xlsx
  • pone.0168550.s005.xlsx
  • pone.0168550.s003.xlsx
View BVdb publication page


A Nonlinear Model for Gene-Based Gene-Environment Interaction.

International Journal Of Molecular Sciences
J Sa, X Liu, T He, G Liu, Y Cui
Publication Date: 2016-06-04

Variant appearance in text: rs2507802
PubMed Link: 27271617
PubMed Central Link
Variant Present in the following documents:
  • ijms-17-00882-s001.xlsx
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000297450.3 c.1334-5794G>T - intron_variant - 8/8
ENST00000517746.1 c.1337-5794G>T - intron_variant - 8/8
ENST00000518386.1 n.325-5794G>T - intron_variant,non_coding_transcript_variant - 3/3
ENST00000520052.1 c.734-5794G>T - intron_variant - 7/7
ENST00000520734.1 c.737-5794G>T - intron_variant - 7/7
NM_001146.5 c.1337-5794G>T - intron_variant - 8/8
NM_001199859.3 c.1334-5794G>T - intron_variant - 8/8
NM_001314051.1 c.737-5794G>T - intron_variant - 7/7