NF1 c.5C>T ;(p.A2V)

Variant ID: 17-29422332-C-T

NM_001042492.2(NF1):c.5C>T;(p.A2V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiregion sequencing of sarcomatoid renal cell carcinoma arising from autosomal dominant polycystic kidney disease.

Molecular Genetics & Genomic Medicine
Lee, Elizabeth E; Guan, Peiyong P; Lim, Abner Herbert AH; Loh, Jui Wan JW; Tan, Grace Fangmin GF; Loh, Tracy T; Ng, Dave Yong Xiang DYX; Lee, Jing Yi JY; Goh, Shane S; Liu, Wei W; Ng, Cedric Chuan-Young CC; Teh, Bin Tean BT; Chan, Jason Yongsheng JY
Publication Date: 2022-03

Variant appearance in text: NF1: 5C>T
PubMed Link: 35122417
Variant Present in the following documents:
  • Main text
  • MGG3-10-e1853.pdf
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: NF1: 5C>T
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page