ANGPT2 c.1155G>A ;(p.L385=)

Variant ID: 8-6371240-C-T

NM_001118887.1(ANGPT2):c.1155G>A;(p.L385=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses.

Data In Brief
Russell, Mark W MW; Moldenhauer, Julie S JS; Rychik, Jack J; Burnham, Nancy B NB; Zullo, Erin E; Parry, Samuel I SI; Simmons, Rebecca A RA; Elovitz, Michal A MA; Nicolson, Susan C SC; Linn, Rebecca L RL; Johnson, Mark P MP; Yu, Sunkyung S; Sampson, Matthew G MG; Hakonarson, Hakon H; Gaynor, J William JW
Publication Date: 2019-08

Variant appearance in text: rs149383060
PubMed Link: 31453292
Variant Present in the following documents:
  • Main text
  • main.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
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs149383060
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page