Variant #0000002671 (NC_000002.12:g.165991522G>A, NM_001165963.2:c.5753C>T (SCN1A))

Individual ID 00000602
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.165991522G>A
Published as -
Reference Chung-Kin Chan et al.(2020)
DB-ID SCN1A_000012
dbSNP ID rs796053048
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 2021-04-28 15:27:19 +08:00 (CST)
Date last edited 2021-08-01 14:15:45 +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.5753C>T - r.(?) p.(Ser1918Phe) - Likely Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000668 DNA PCR;SEQ;TaqMan SCN1A 1 Nur Aisyah Athirah