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 International |
Created by |
Nuur Athirah Binti Mohd Daud |
Variant on transcripts
Screenings
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