Individual #00000160

Reference P S Ng et al. (2016)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases Breast cancer
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     
0000000175 DNA SEQ-NG CHEK2 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     
22 Unknown +?/. g.28695734_28695758del Y404fs P S Ng et al. (2016) CHEK2_000004 - 1/3 - Nuur Athirah Binti Mohd Daud CHEK2 11 NM_007194.3:c.1211_1235del - r.(?) p.(Tyr404Phefs*2) - -
22 Unknown +?/. g.28695769delC T401fs P S Ng et al. (2016) CHEK2_000003 - 1/3 - Nuur Athirah Binti Mohd Daud CHEK2 11 NM_007194.3:c.1200delG - r.(?) p.(Thr401Leufs*13) - -
22 Unknown ./. g.28725031G>A R180C P S Ng et al. (2016)dbSNP CHEK2_000002 rs77130927 1/3 - Nuur Athirah Binti Mohd Daud CHEK2 4 NM_007194.3:c.538C>T - r.(?) p.(Arg180Cys) - ClinVar
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