Variant #0000001129 (NC_000002.12:g.166038079C>G, NM_001165963.2:c.2643G>C (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.166038079C>G
Published as K871N,G2610C
Reference Emmilia Husni Tan et al. (2012)
DB-ID SCN1A_000004
dbSNP ID rs776985592
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 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-06 16:21:52 +08:00 (CST)
Date last edited 2021-09-08 11:52:29 +08:00 (CST)
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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 +/. 15 c.2643G>C - r.(?) p.(Lys881Asn) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000241 DNA DHPLC;PCR SCN1A 7 Nuur Athirah Binti Mohd Daud