Variant #0000001822 (NC_000002.12:g.166054734G>C, SCN1A(NM_001165963.2):c.506C>G)

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.166054734G>C
Published as -
Reference dbSNP
DB-ID SCN1A_000035
dbSNP ID rs104893734
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
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.506C>G - r.(?) p.(Ser169*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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