Variant ID: 8-108463840-C-A

NM_001146.3(ANGPT1):c.297+45650G>T

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:

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: rs11991529
PubMed Link: 28045923
PubMed Central Link
Variant Present in the following documents:
  • pone.0168550.s006.xlsx
  • pone.0168550.s005.xlsx
  • pone.0168550.s007.xlsx
View BVdb publication page


Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

Nature Genetics
JN Painter, CA Anderson, DR Nyholt, S Macgregor, J Lin, SH Lee, A Lambert, ZZ Zhao, F Roseman, Q Guo, SD Gordon, L Wallace, AK Henders, PM Visscher, P Kraft, NG Martin, AP Morris, SA Treloar, SH Kennedy, SA Missmer, GW Montgomery, KT Zondervan
Publication Date: 2011-01

Variant appearance in text: rs11991529
PubMed Link: 21151130
PubMed Central Link
Variant Present in the following documents:
  • NIHMS33578-supplement-1.pdf
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000297450.3 c.297+45650G>T - intron_variant - 1/8
ENST00000517746.1 c.297+45650G>T - intron_variant - 1/8
ENST00000520033.1 c.-25+42951G>T - intron_variant - 1/1
NM_001146.5 c.297+45650G>T - intron_variant - 1/8
NM_001199859.3 c.297+45650G>T - intron_variant - 1/8