Variant #0000001131 (NC_000002.12:g.165994208T>C, NM_001165963.2:c.4790A>G (SCN1A))
Individual ID |
00000226 |
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.165994208T>C |
Published as |
H1583R,A4748G |
Reference |
Emmilia Husni Tan et al. (2012) |
DB-ID |
SCN1A_000006 |
dbSNP ID |
- |
Frequency |
1/9 |
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 |
2020-12-06 16:33:03 +08:00 (CST) |
Date last edited |
2020-12-14 17:22:39 +08:00 (CST) |

Variant on transcripts
Screenings
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