Variant #0000002186 (NC_000011.10:g.118169895C>T, NC_000011.10(NM_004588.4):c.71-1144G>A (SCN2B))

Individual ID 00000456
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.118169895C>T
Published as -
Reference Larry Baum et al.(2014)
DB-ID SCN2B_000001
dbSNP ID rs602594
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 2021-02-25 10:09:43 +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)     

Published as     

RNA change     

Protein     

Clinical classification     
SCN2B NM_004588.4 +/. - c.71-1144G>A - r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000498 DNA ? SCN2B 1 Nur Aisyah Athirah