Variant #0000002151 (NC_000002.12:g.19253A>G, NC_000002.12(NM_001165963.2):c.265-699A>G (SCN1A))

Individual ID 00000456
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.19253A>G
Published as -
Reference Larry Baum et al.(2014)
DB-ID SCN1A_000009
dbSNP ID rs10188577
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 2021-02-24 10:37:23 +08:00 (CST)
Date last edited 2021-08-01 13:06:55 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
SCN1A NM_001165963.2 +/. - c.265-699A>G - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000495 DNA ? SCN1A 3 Nur Aisyah Athirah