Variant #0000002612 (NC_000002.12:g.5694A>G, NM_001165963.2:c.5197A>G (SCN1A))

Individual ID 00000584
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5694A>G
Published as -
Reference Emmilia H Tan et al.(2012)
DB-ID SCN1A_000011
dbSNP ID rs138287354
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-04-19 10:04:50 +08:00 (CST)
Date last edited 2021-09-08 11:30:48 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
SCN1A NM_001165963.2 +/. 26 c.5197A>G - r.(?) p.(Ile1733Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000646 ? ? SCN1A 1 Nur Aisyah Athirah