NF1 c.2806A>T ;(p.K936*)

Variant ID: 17-29556439-A-T

NM_001042492.2(NF1):c.2806A>T;(p.K936*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06

Variant appearance in text: NF1: 2806A>T
PubMed Link: 35053433
Variant Present in the following documents:
  • Main text
  • cancers-14-00269.pdf
View BVdb publication page



Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06

Variant appearance in text: NF1: 2806A>T
PubMed Link: 35053433
Variant Present in the following documents:
  • Main text
  • cancers-14-00269.pdf
View BVdb publication page



Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

The Journal Of Clinical Endocrinology And Metabolism
Welander, Jenny J; Andreasson, Adam A; Juhlin, C Christofer CC; Wiseman, Roger W RW; Bäckdahl, Martin M; Höög, Anders A; Larsson, Catharina C; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2014-07

Variant appearance in text: NF1: 2806A>T; Lys936X
PubMed Link: 24694336
Variant Present in the following documents:
  • Main text
View BVdb publication page