Variant #0000001810 (NC_000002.12:g.165992120G>A, NM_001165963.2:c.5155C>T (SCN1A))

Individual ID 00000388
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.165992120G>A
Published as -
Reference -
DB-ID SCN1A_000023
dbSNP ID rs782367966
Frequency 1/38
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-01-28 14:21:08 +08:00 (CST)
Date last edited 2021-09-05 15:23:02 +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.5155C>T - r.(?) p.(Gln1719*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000402 DNA MLPA;PCR;SEQ SCN1A 18 Nuur Athirah Binti Mohd Daud