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


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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