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
Date created 2021-02-18 12:42:48 +08:00 (CST)
Date last edited 2021-08-01 12:57:47 +08:00 (CST)


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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