HPS5 c.897-1054A>G

Variant ID: 11-18323517-T-C

NM_181507.1(HPS5):c.897-1054A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4353250
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.

Plos Genetics
Marzi, Carola C; Albrecht, Eva E; Hysi, Pirro G PG; Lagou, Vasiliki V; Waldenberger, Melanie M; Tönjes, Anke A; Prokopenko, Inga I; Heim, Katharina K; Blackburn, Hannah H; Ried, Janina S JS; Kleber, Marcus E ME; Mangino, Massimo M; Thorand, Barbara B; Peters, Annette A; Hammond, Christopher J CJ; Grallert, Harald H; Boehm, Bernhard O BO; Kovacs, Peter P; Geistlinger, Ludwig L; Prokisch, Holger H; Winkelmann, Bernhard R BR; Spector, Tim D TD; Wichmann, H-Erich HE; Stumvoll, Michael M; Soranzo, Nicole N; März, Winfried W; Koenig, Wolfgang W; Illig, Thomas T; Gieger, Christian C
Publication Date: 2010-11-18

Variant appearance in text: rs4353250
PubMed Link: 21124955
Variant Present in the following documents:
  • Main text
  • pgen.1001213.pdf
View BVdb publication page