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 International |
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) |

Variant on transcripts
Screenings
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