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
Date created 2020-11-25 11:39:11 +08:00 (CST)
Date last edited 2020-12-14 16:59:18 +08:00 (CST)


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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