SCN1A c.602+1G>T

Variant ID: 2-166911147-C-A

NM_001165963.1(SCN1A):c.602+1G>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: rs794726827
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

American Journal Of Human Genetics
Galer, Peter D PD; Ganesan, Shiva S; Lewis-Smith, David D; McKeown, Sarah E SE; Pendziwiat, Manuela M; Helbig, Katherine L KL; Ellis, Colin A CA; Rademacher, Annika A; Smith, Lacey L; Poduri, Annapurna A; Seiffert, Simone S; von Spiczak, Sarah S; Muhle, Hiltrud H; van Baalen, Andreas A; , ; , ; , ; , ; Thomas, Rhys H RH; Krause, Roland R; Weber, Yvonne Y; Helbig, Ingo I
Publication Date: 2020-10-01

Variant appearance in text: rs794726827
PubMed Link: 32853554
Variant Present in the following documents:
  • mmc2.xlsx, sheet 7
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: rs794726827
PubMed Link: 32347949
Variant Present in the following documents:
  • jamanetwopen-3-e203812-s001.pdf
View BVdb publication page



Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

Plos One
Ortega-Moreno, Laura L; Giráldez, Beatriz G BG; Soto-Insuga, Victor V; Losada-Del Pozo, Rebeca R; Rodrigo-Moreno, María M; Alarcón-Morcillo, Cristina C; Sánchez-Martín, Gema G; Díaz-Gómez, Esther E; Guerrero-López, Rosa R; Serratosa, José M JM; ,
Publication Date: 2017

Variant appearance in text: rs794726827
PubMed Link: 29190809
Variant Present in the following documents:
  • Main text
  • pone.0188978.pdf
View BVdb publication page