NF1 c.44G>A ;(p.S15N)

Variant ID: 17-29422371-G-A

NM_001042492.2(NF1):c.44G>A;(p.S15N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: NF1: S15N
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: NF1: S15N
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype.

Cancers
Heibl, Sonja S; Gisslinger, Bettina B; Jäger, Eva E; Barna, Agnes A; Gurbisz, Michael M; Stegemann, Maike M; Bettelheim, Peter P; Machherndl-Spandl, Sigrid S; Pfeilstöcker, Michael M; Nösslinger, Thomas T; Uyanik, Gökhan G; Hoermann, Gregor G; Stauder, Reinhard R; Thaler, Josef J; Kusec, Rajko R; Valent, Peter P; Gisslinger, Heinz H; Geissler, Klaus K
Publication Date: 2020-07-14

Variant appearance in text: NF1: 44G>A
PubMed Link: 32674283
Variant Present in the following documents:
  • cancers-12-01891-s001.pdf
View BVdb publication page



Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Nature Communications
Kurki, Mitja I MI; Saarentaus, Elmo E; Pietiläinen, Olli O; Gormley, Padhraig P; Lal, Dennis D; Kerminen, Sini S; Torniainen-Holm, Minna M; Hämäläinen, Eija E; Rahikkala, Elisa E; Keski-Filppula, Riikka R; Rauhala, Merja M; Korpi-Heikkilä, Satu S; Komulainen-Ebrahim, Jonna J; Helander, Heli H; Vieira, Päivi P; Männikkö, Minna M; Peltonen, Markku M; Havulinna, Aki S AS; Salomaa, Veikko V; Pirinen, Matti M; Suvisaari, Jaana J; Moilanen, Jukka S JS; Körkkö, Jarmo J; Kuismin, Outi O; Daly, Mark J MJ; Palotie, Aarno A
Publication Date: 2019-01-24

Variant appearance in text: NF1: 44G>A
PubMed Link: 30679432
Variant Present in the following documents:
  • 41467_2018_8262_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page