Individual #00000430

Reference Batoul Sadat Haerian et al. (2015)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases Epilepsy
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000461 DNA SBE RORA 5 Nur Aisyah Athirah
0000000462 DNA SBE RORB 4 Nur Aisyah Athirah
0000000464 DNA SBE SCN1A 1 Nur Aisyah Athirah



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.166909544C>T - Batoul Sadat Haerian et al. (2015),ClinVar SCN1A_000008 rs3812718 - - Nur Aisyah Athirah SCN1A - NM_001165963.2:c.603-91G>A - r.(=) p.(=) - drug response
9 Unknown +/. g.74623944T>C - Batoul Sadat Haerian et al. (2015) RORB_000001 rs1157358 - - Nur Aisyah Athirah RORB - NM_006914.3:c.8-6338T>C - r.(=) p.(=) - -
9 Unknown +/. g.74629537G>A - Batoul Sadat Haerian et al. (2015) RORB_000002 rs7022435 - - Nur Aisyah Athirah RORB - NM_006914.3:c.8-745G>A - r.(=) p.(=) - -
9 Unknown +/. g.74634466C>T - Batoul Sadat Haerian et al. (2015) RORB_000003 rs3750420 - - Nur Aisyah Athirah RORB - NM_006914.3:c.94-165C>T - r.(=) p.(=) - -
9 Unknown +/. g.74649312T>A - Batoul Sadat Haerian et al. (2015) RORB_000004 rs3903529 - - Nur Aisyah Athirah RORB - NM_006914.3:c.637+6497T>A - r.(=) p.(=) - -
15 Unknown +/. g.60499755A>C - Batoul Sadat Haerian et al. (2015) RORA_000004 rs2290430 - - Nur Aisyah Athirah RORA - NM_134261.2:c.1407+137T>G - r.(=) p.(=) - -
15 Unknown +/. g.60691230G>A - Batoul Sadat Haerian et al. (2015) RORA_000003 - - - Nur Aisyah Athirah RORA - NM_134261.2:c.167-12544C>T - r.(=) p.(=) - -
15 Unknown +/. g.60974897C>T - Batoul Sadat Haerian et al. (2015) RORA_000001 rs12912233 - - Nur Aisyah Athirah RORA - NM_134261.2:c.166+254156G>A - r.(=) p.(=) - -
15 Unknown +/. g.60987054T>G - Batoul Sadat Haerian et al. (2015) RORA_000006 - - - Nur Aisyah Athirah RORA - NM_134261.2:c.166+241999A>C - r.(=) p.(=) - -
15 Unknown +/. g.61148472C>T - Batoul Sadat Haerian et al. (2015) RORA_000007 rs12900948 - - Nur Aisyah Athirah RORA - NM_134261.2:c.166+80581G>A - r.(=) p.(=) - -
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