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SCN1A c.88G>A ;(p.A30T)
Variant ID: 2-166930044-C-T
NM_001165963.1(
SCN1A
):c.88G>A;(p.A30T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.
Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14
Variant appearance in text: SCN1A: Ala30Thr
PubMed Link:
34521849
Variant Present in the following documents:
41467_2021_25787_MOESM10_ESM.xlsx, sheet 7
View BVdb publication page
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08
Variant appearance in text: SCN1A: 88G>A; A30T
PubMed Link:
33860439
Variant Present in the following documents:
12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page