Individual #00000355

Reference Kek-Heng Chua et al. (2010)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases SLE
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
Date created 2021-01-17 12:29:02 +08:00 (CST)
Date last edited 2021-07-25 13:05:41 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000369 DNA PCR CTLA4 8 Nuur Athirah Binti Mohd Daud



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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.203866221T>C –1722T/C Kek-Heng Chua et al. (2010), dbSNP CTLA4_000001 rs733618 68/130 - Nuur Athirah Binti Mohd Daud CTLA4 - NM_005214.4:c.-1722T>C - r.(=) p.(=) - -
2 Both (homozygous) +/. g.203866221T>C –1722T/C Kek-Heng Chua et al. (2010), dbSNP CTLA4_000001 rs733618 11/130 - Nuur Athirah Binti Mohd Daud CTLA4 - NM_005214.4:c.-1722T>C - r.(=) p.(=) - -
2 Unknown +/. g.203866282A>G –1661A/G Kek-Heng Chua et al. (2010) CTLA4_000002 - 27/130 - Nuur Athirah Binti Mohd Daud CTLA4 - NM_005214.4:c.-1661A>G - r.(=) p.(=) - -
2 Unknown +/. g.203867625A>T –318C/T Kek-Heng Chua et al. (2010) CTLA4_000003 - 19/130 - Nuur Athirah Binti Mohd Daud CTLA4 - NM_005214.4:c.-318A>T - r.(=) p.(=) - -
2 Unknown -/. g.203867991A>G 49A/G Kek-Heng Chua et al. (2010), dbSNP, ClinVar CTLA4_000004 rs231775 69/130 - Nuur Athirah Binti Mohd Daud CTLA4 1 NM_005214.4:c.49A>G - r.(?) p.(Thr17Ala) - ClinVar
2 Both (homozygous) -/. g.203867991A>G 49A/G Kek-Heng Chua et al. (2010), dbSNP, ClinVar CTLA4_000004 rs231775 43/130 - Nuur Athirah Binti Mohd Daud CTLA4 1 NM_005214.4:c.49A>G - r.(?) p.(Thr17Ala) - ClinVar
2 Unknown +/. g.203878370A>G 6230A/G Kek-Heng Chua et al. (2010) CTLA4_000005 - 26/130 - Nuur Athirah Binti Mohd Daud CTLA4 - NM_005214.4:c.*5558A>G - r.(=) p.(=) - -
2 Both (homozygous) +/. g.203878370A>G 6230A/G Kek-Heng Chua et al. (2010) CTLA4_000005 - 100/130 - Nuur Athirah Binti Mohd Daud CTLA4 - NM_005214.4:c.*5558A>G - r.(=) p.(=) - -
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