Variant #0000001826 (NC_000002.12:g.166052891_166052892del, NM_001165963.2:c.654_655delCA (SCN1A))

Individual ID 00000389
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.166052891_166052892del
Published as -
Reference -
DB-ID SCN1A_000039
dbSNP ID rs1591828796
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 2021-01-31 11:12:52 +08:00 (CST)
Date last edited 2021-09-08 12:12:52 +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.654_655delCA - r.(?) p.(Phe218Leufs*58) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000403 DNA MLPA;PCR;SEQ SCN1A 15 Nuur Athirah Binti Mohd Daud