Variant #0000001795 (NC_000002.12:g.166053034C>T, NC_000002.12(NM_001165963.2):c.603-91G>A (SCN1A))

Individual ID 00000384
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.166053034C>T
Published as -
Reference Batoul Sadat Haerian et al. (2015), dbSNP, ClinVar
DB-ID SCN1A_000008 See all 10 reported entries
dbSNP ID rs3812718
Frequency 39/282
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 2021-01-27 12:39:57 +08:00 (CST)
Date last edited 2021-09-05 11:57:49 +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 +/. - c.603-91G>A - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000398 DNA SEQ;SBE SCN1A 2 Nuur Athirah Binti Mohd Daud