Individual #00000385

Reference Batoul Sadat Haerian et al. (2015)
Gender -
Geographic origin Malaysia
Ethnic origin Indian
Population -
Remarks -
Microattribution -
Panel size 1
Diseases Epilepsy
Owner name 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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000399 DNA SEQ;SBE SCN1A 2 Nuur Athirah Binti Mohd Daud



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
2 Unknown +/. g.166053034C>T - Batoul Sadat Haerian et al. (2015), dbSNP, ClinVar SCN1A_000008 rs3812718 66/151 - Nuur Athirah Binti Mohd Daud SCN1A - NM_001165963.2:c.603-91G>A - r.(=) p.(=) - ClinVar
2 Both (homozygous) +/. g.166053034C>T - Batoul Sadat Haerian et al. (2015), dbSNP, ClinVar SCN1A_000008 rs3812718 19/151 - Nuur Athirah Binti Mohd Daud SCN1A - NM_001165963.2:c.603-91G>A - r.(=) p.(=) - ClinVar
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