Variant #0000001802 (NC_000002.12:g.165996047G>T, NM_001165963.2:c.4547C>A (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.165996047G>T
Published as -
Reference dbSNP, ClinVar
DB-ID SCN1A_000015
dbSNP ID rs139300715
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 13:40:18 +08:00 (CST)
Date last edited 2021-09-05 12:55:23 +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 +/. 24 c.4547C>A - r.(?) p.(Ser1516*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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