NOTCH1 c.613G>C ;(p.V205L)

Variant ID: 9-139417431-C-G

NM_017617.3(NOTCH1):c.613G>C;(p.V205L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Telomere alterations in neurofibromatosis type 1-associated solid tumors.

Acta Neuropathologica Communications
Rodriguez, Fausto J FJ; Graham, Mindy K MK; Brosnan-Cashman, Jacqueline A JA; Barber, John R JR; Davis, Christine C; Vizcaino, M Adelita MA; Palsgrove, Doreen N DN; Giannini, Caterina C; Pekmezci, Melike M; Dahiya, Sonika S; Gokden, Murat M; Noƫ, Michael M; Wood, Laura D LD; Pratilas, Christine A CA; Morris, Carol D CD; Belzberg, Allan A; Blakeley, Jaishri J; Heaphy, Christopher M CM
Publication Date: 2019-08-28

Variant appearance in text: NOTCH1: V205L
PubMed Link: 31462295
Variant Present in the following documents:
  • 40478_2019_792_MOESM1_ESM.pdf
View BVdb publication page



Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Palsgrove, Doreen N DN; Brosnan-Cashman, Jacqueline A JA; Giannini, Caterina C; Raghunathan, Aditya A; Jentoft, Mark M; Bettegowda, Chetan C; Gokden, Murat M; Lin, Doris D; Yuan, Ming M; Lin, Ming-Tseh MT; Heaphy, Christopher M CM; Rodriguez, Fausto J FJ
Publication Date: 2018-12

Variant appearance in text: NOTCH1: V205L
PubMed Link: 29973652
Variant Present in the following documents:
  • NIHMS972465-supplement-2.xlsx, sheet 1
  • NIHMS972465-supplement-1.xlsx, sheet 6
View BVdb publication page