SCN1A c.2506G>T ;(p.D836Y)

Variant ID: 2-166896016-C-A

NM_001165963.1(SCN1A):c.2506G>T;(p.D836Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies.

Frontiers In Pediatrics
Sun, Dan D; Liu, Yan Y; Cai, Wei W; Ma, Jiehui J; Ni, Kun K; Chen, Ming M; Wang, Cheng C; Liu, Yongchu Y; Zhu, Yuanyuan Y; Liu, Zhisheng Z; Zhu, Feng F
Publication Date: 2021

Variant appearance in text: SCN1A: 2506G>T; D836Y
PubMed Link: 34055682
Variant Present in the following documents:
  • Main text
  • fped-09-635703.pdf
View BVdb publication page