NF1 c.3655G>C ;(p.G1219R)

Variant ID: 17-29560178-G-C

NM_001042492.2(NF1):c.3655G>C;(p.G1219R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Ras-Specific GTPase-Activating Proteins-Structures, Mechanisms, and Interactions.

Cold Spring Harbor Perspectives In Medicine
Scheffzek, Klaus K; Shivalingaiah, Giridhar G
Publication Date: 2019-03-01

Variant appearance in text: NF1: G1219R
PubMed Link: 30104198
Variant Present in the following documents:
  • Main text
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: NF1: G1219R
PubMed Link: 29973652
Variant Present in the following documents:
  • Main text
  • nihms972465.pdf
View BVdb publication page