Individual #00000186

Reference Shafina-Nadiawati Abdul et al. (2017)
Gender F
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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000201 DNA PCR;SEQ;Western APC 5 Nuur Athirah Binti Mohd Daud



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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.112837928_112837931del N778fs Shafina-Nadiawati Abdul et al. (2017), dbSNP APC_000019 rs1580620655 1/9 - Nuur Athirah Binti Mohd Daud APC 16 NM_000038.5:c.2334_2337del N778fs r.(?) p.(Asn778Lysfs*41) - ClinVar
5 Unknown +/. g.112838007C>T R805* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000020 rs587779783 1/9 - Nuur Athirah Binti Mohd Daud APC 16 NM_000038.5:c.2413C>T R805* r.(?) p.(Arg805*) - ClinVar
5 Unknown +/. g.112838396_112838399del Y935fs Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000021 rs1131691143 1/9 - Nuur Athirah Binti Mohd Daud APC 16 NM_000038.5:c.2802_2805del Y935fs r.(?) p.(Tyr935Ilefs*19) - ClinVar
5 Unknown +/. g.112839726C>T Q1378* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000022 rs121913329 2/9 - Nuur Athirah Binti Mohd Daud APC 16 NM_000038.5:c.4132C>T Q1378* r.(?) p.(Gln1378*) - ClinVar
5 Unknown +/. g.112840047del A1485fs Shafina-Nadiawati Abdul et al. (2017) APC_000023 rs61750095 1/9 - Nuur Athirah Binti Mohd Daud APC 16 NM_000038.5:c.4453del A1485fs r.(?) p.(Ala1485Leufs*22) - -
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