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
Date created 2020-11-18 16:41:26 +08:00 (CST)
Date last edited 2020-12-14 11:46:27 +08:00 (CST)


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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