SCN1A c.68C>T ;(p.A23V)

Variant ID: 2-166930064-G-A

NM_001165963.1(SCN1A):c.68C>T;(p.A23V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21

Variant appearance in text: SCN1A: A23V; rs139397227
PubMed Link: 34802461
Variant Present in the following documents:
  • 40246_2021_368_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Integrated genomic and transcriptomic analysis reveals unique characteristics of hepatic metastases and pro-metastatic role of complement C1q in pancreatic ductal adenocarcinoma.

Genome Biology
Yang, Jianyu J; Lin, Ping P; Yang, Minwei M; Liu, Wei W; Fu, Xueliang X; Liu, Dejun D; Tao, Lingye L; Huo, Yanmiao Y; Zhang, Junfeng J; Hua, Rong R; Zhang, Zhigang Z; Li, Yixue Y; Wang, Liwei L; Xue, Jing J; Li, Hong H; Sun, Yongwei Y
Publication Date: 2021-01-04

Variant appearance in text: SCN1A: 68C>T; A23V
PubMed Link: 33397441
Variant Present in the following documents:
  • 13059_2020_2222_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: SCN1A: A23V
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open
SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY
Publication Date: 2020-04-01

Variant appearance in text: SCN1A: 68C>T; Ala23Val
PubMed Link: 32347949
Variant Present in the following documents:
  • jamanetwopen-3-e203812-s001.pdf
View BVdb publication page