Individual #00000417

Reference Wan Juhari, W. K.(2020)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 2
Diseases HNPCC
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 2021-02-16 10:26:14 +08:00 (CST)
Date last edited 2021-08-01 12:48:30 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000436 DNA PCR MSH2 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     
2 Unknown +/. g.47403411C>G - dbSNP MSH2_000007 rs2303426 - - Nur Aisyah Athirah MSH2 - NM_000251.2:c.211+9C>G - r.(=) p.(=) - benign
2 Unknown +/. g.47403500T>C - dbSNP MSH2_000006 rs3815865 - - Nur Aisyah Athirah MSH2 - NM_000251.2:c.211+98T>C - r.(=) p.(=) - benign
2 Unknown +/. g.47410008A>C - - MSH2_000008 - - - Nur Aisyah Athirah MSH2 - NM_000251.2:c.367-86A>C - r.(=) p.(=) - -
2 Unknown +/. g.47410109C>G - - MSH2_000009 rs145649774 - - Nur Aisyah Athirah MSH2 3 NM_000251.2:c.382C>G - r.(?) p.(Leu128Val) - ClinVar
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