Variant #0000002150 (NC_000002.12:g.25606G>A, NC_000002.12(NM_001165963.2):c.603-91G>A (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.25606G>A
Published as IVS5N+5G>A
Reference Larry Baum et al.(2014)
DB-ID SCN1A_000008 See all 10 reported entries
dbSNP ID rs3812718
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 10:34:29 +08:00 (CST)
Date last edited 2021-08-01 13:06:55 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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GVS function     

Clinical classification     
SCN1A NM_001165963.2 +/. - c.603-91G>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000495 DNA ? SCN1A 3 Nur Aisyah Athirah