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PRRT2 c.490del ;(p.E164Rfs*12)
Variant ID: 16-29824863-AG-A
NM_145239.2(
PRRT2
):c.490del;(p.E164Rfs*12)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Frontiers In Molecular Neuroscience
Jiang, Tiejia T; Gao, Jia J; Jiang, Lihua L; Xu, Lu L; Zhao, Congying C; Su, Xiaojun X; Shen, Yaping Y; Gu, Weiyue W; Kong, Xiaohong X; Yang, Ying Y; Gao, Feng F
Publication Date: 2021
Variant appearance in text: PRRT2: 489delG
PubMed Link:
34489640
Variant Present in the following documents:
Main text
View BVdb publication page