Individual #00000428

Reference Abdul SN et al.(2017), Abdul SN et al.(2017)
Gender ?
Geographic origin (Kuala Lumpur)
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CRC
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-02-18 09:37:34 +08:00 (CST)
Date last edited 2021-08-01 12:57:04 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000458 DNA SEQ APC 4 Nur Aisyah Athirah



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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.112838007C>T - Abdul SN et al.(2017) APC_000020 rs587779783 - - Nur Aisyah Athirah APC - NM_000038.5:c.2413C>T, NM_001127511.2:c.2359C>T - r.(?) p.(Arg805*), p.(Arg787*) - Pathogenic, Likely benign
5 Unknown +/. g.112838398dupA - Abdul SN et al.(2017) APC_000027 rs863225332 - - Nur Aisyah Athirah APC - NM_000038.5:c.2804dupA, NM_001127511.2:c.2750dupA - r.(?) p.(Tyr935*), p.(Tyr917*) - Pathogenic/Likely pathogenic, -
5 Unknown +/. g.112839796_112839797delTT - Abdul SN et al.(2017) APC_000028 - - - Nur Aisyah Athirah APC - NM_000038.5:c.4202_4203delTT, NM_001127511.2:c.4148_4149delTT - r.(?) p.(Ile1401Serfs*7), p.(Ile1383Serfs*7) - -
5 Unknown +/. g.112840049delT - Abdul SN et al.(2017) APC_000026 rs113994134 - - Nur Aisyah Athirah APC - NM_000038.5:c.4455delT, NM_001127511.2:c.4401delT - r.(?) p.(Asp1486Ilefs*21), p.(Asp1468Ilefs*21) - -
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