Variant #0000001801 (NC_000002.12:g.166073375A>C, SCN1A(NM_001165963.2):c.247T>G)

Individual ID 00000387
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.166073375A>C
Published as -
Reference -
DB-ID SCN1A_000014
dbSNP ID rs1584294942
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
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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 +/. 1 c.247T>G - r.(?) p.(Tyr83Asp) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000401 DNA MLPA;PCR;SEQ SCN1A 2 Nuur Athirah Binti Mohd Daud