NF1 c.480-2216C>A

Variant ID: 17-29494693-C-A

NM_001042492.2(NF1):c.480-2216C>A

This variant was identified in 3 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: rs2953016
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: rs2953016
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 21
View BVdb publication page



Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Human Molecular Genetics
Sabbagh, Audrey A; Pasmant, Eric E; Laurendeau, Ingrid I; Parfait, BĂ©atrice B; Barbarot, SĂ©bastien S; Guillot, Bernard B; Combemale, Patrick P; Ferkal, Salah S; Vidaud, Michel M; Aubourg, Patrick P; Vidaud, Dominique D; Wolkenstein, Pierre P; ,
Publication Date: 2009-08-01

Variant appearance in text: rs2953016
PubMed Link: 19417008
Variant Present in the following documents:
  • Main text
View BVdb publication page