Individual #00000294

Reference L H Lian et al. (2013)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CD
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 2020-12-22 15:05:40 +08:00 (CST)
Date last edited 2020-12-22 17:09:33 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000309 DNA PCR TYK2 3 Nuur Athirah Binti Mohd Daud



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     
19 Both (homozygous) +/. g.10362257A>G - L H Lian et al. (2013), dbSNP, ClinVar TYK2_000001 rs280519 26/80 - Nuur Athirah Binti Mohd Daud TYK2 - NM_003331.4:c.1669+7T>C - r.(=) p.(=) - ClinVar
19 Unknown -/. g.10362257A>G - L H Lian et al. (2013), dbSNP, ClinVar TYK2_000001 rs280519 41/80 - Nuur Athirah Binti Mohd Daud TYK2 - NM_003331.4:c.1669+7T>C - r.(=) p.(=) - ClinVar
19 Unknown -/. g.10364976C>A - L H Lian et al. (2013), dbSNP, ClinVar TYK2_000002 rs2304256 42/80 - Nuur Athirah Binti Mohd Daud TYK2 - NM_003331.4:c.1084G>T - r.(?) p.(Val362Phe) - ClinVar
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