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SCN1A c.2473_2476del ;(p.Y825Ifs*15)
Variant ID: 2-166896045-TAGTA-T
NM_001165963.1(
SCN1A
):c.2473_2476del;(p.Y825Ifs*15)
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:
Severe Myoclonic Epilepsy in Infancy - Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases.
Molecular Syndromology
Martin, P P; Rautenstrauβ, B B; Abicht, A A; Fahrbach, J J; Koster, S S
Publication Date: 2010
Variant appearance in text: SCN1A: 2473_2476delTACT
PubMed Link:
22140375
Variant Present in the following documents:
Main text
View BVdb publication page