Individual #00000187

Reference Shafina-Nadiawati Abdul et al. (2017)
Gender M
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases APC
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 2020-11-25 14:20:31 +08:00 (CST)
Date last edited 2020-12-14 17:00:46 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000202 DNA PCR;SEQ;Western APC 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     
5 Unknown +/. g.112815507C>T R283∗ Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000008 rs786201856 1/4 - Nuur Athirah Binti Mohd Daud APC 9 NM_000038.5:c.847C>T R283∗ r.(?) p.(Arg283*) - ClinVar
5 Unknown +?/. g.112838733G>T E1057* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000024 rs568149455 1/4 - Nuur Athirah Binti Mohd Daud APC 16 NM_000038.5:c.3139G>T E1057* r.(?) p.(Glu1047*) - ClinVar
5 Unknown +?/. g.112839729G>T E1361* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000025 rs121913326 2/4 - Nuur Athirah Binti Mohd Daud APC 16 NM_000038.5:c.4135G>T E1361* r.(?) p.(Glu1379*) - ClinVar
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