Variant ID: 8-108301798-G-T

NM_001146.3(ANGPT1):c.1038+4366C>A

This variant was identified in 4 publications



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

Publications:

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: rs4324901
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: rs4324901
PubMed Link: 27271617
PubMed Central Link
Variant Present in the following documents:
  • ijms-17-00882-s001.xlsx
View BVdb publication page


Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.

Gastroenterology
KE Roberts, SM Kawut, MJ Krowka, RS Brown, JF Trotter, V Shah, I Peter, H Tighiouart, N Mitra, E Handorf, JA Knowles, S Zacks, MB Fallon,
Publication Date: 2010-07

Variant appearance in text: rs4324901
PubMed Link: 20346360
PubMed Central Link
Variant Present in the following documents:
  • NIHMS212630-supplement-supplement_1.pdf
View BVdb publication page


Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease.

American Journal Of Respiratory And Critical Care Medicine
KE Roberts, MB Fallon, MJ Krowka, RS Brown, JF Trotter, I Peter, H Tighiouart, JA Knowles, D Rabinowitz, RL Benza, DB Badesch, DB Taichman, EM Horn, S Zacks, N Kaplowitz, SM Kawut,
Publication Date: 2009-05-01

Variant appearance in text: rs4324901
PubMed Link: 19218192
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000297450.3 c.1035+4366C>A - intron_variant - 6/8
ENST00000517746.1 c.1038+4366C>A - intron_variant - 6/8
ENST00000518386.1 n.193+4366C>A - intron_variant,non_coding_transcript_variant - 2/3
ENST00000520052.1 c.435+4366C>A - intron_variant - 5/7
ENST00000520734.1 c.438+4366C>A - intron_variant - 5/7
ENST00000521950.1 n.325+4366C>A - intron_variant,non_coding_transcript_variant - 3/3
ENST00000522400.1 n.1606+4366C>A - intron_variant,non_coding_transcript_variant - 1/1
NM_001146.5 c.1038+4366C>A - intron_variant - 6/8
NM_001199859.3 c.1035+4366C>A - intron_variant - 6/8
NM_001314051.1 c.438+4366C>A - intron_variant - 5/7