CASP9 c.469A>G ;(p.M157V)

Variant ID: 1-15833555-T-C

NM_001229.4(CASP9):c.469A>G;(p.M157V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: CASP9: M157V
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Genetic risk factors in two Utah pedigrees at high risk for suicide.

Translational Psychiatry
Coon, H H; Darlington, T T; Pimentel, R R; Smith, K R KR; Huff, C D CD; Hu, H H; Jerominski, L L; Hansen, J J; Klein, M M; Callor, W B WB; Byrd, J J; Bakian, A A; Crowell, S E SE; McMahon, W M WM; Rajamanickam, V V; Camp, N J NJ; McGlade, E E; Yurgelun-Todd, D D; Grey, T T; Gray, D D
Publication Date: 2013-11-19

Variant appearance in text: rs145118493
PubMed Link: 24252905
Variant Present in the following documents:
  • Main text
  • tp2013100a.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: rs145118493
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page