SCN5A c.1580G>C ;(p.G527A)

Variant ID: 3-38645513-C-G

NM_000335.4(SCN5A):c.1580G>C;(p.G527A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, ChloƩ C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020

Variant appearance in text: SCN5A: G527A
PubMed Link: 32904945
Variant Present in the following documents:
  • vdaa088_suppl_supplementary_tables.xlsx, sheet 2
View BVdb publication page



Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Lin, Yubi Y; Zhao, Ting T; He, Siqi S; Huang, Jiana J; Liu, Qianru Q; Yang, Zhe Z; Qin, Jiading J; Yu, Nan N; Lu, Hongyun H; Lin, Xiufang X
Publication Date: 2020-01

Variant appearance in text: SCN5A: G527A
PubMed Link: 31565860
Variant Present in the following documents:
  • Main text
  • ANEC-25-e12694.pdf
View BVdb publication page