Individual #00000420

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 10:59:09 +08:00 (CST)
Date last edited 2021-08-01 12:50:22 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000439 DNA PCR MLH1 2 Nur Aisyah Athirah
0000000440 DNA PCR MSH2 2 Nur Aisyah Athirah



Variants

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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
3 Unknown -/. g.36993455G>A - dbSNP MLH1_000002 rs1800734 - - Nur Aisyah Athirah MLH1 - NM_000249.3:c.-93G>A - r.(=) p.(=) - ClinVar
3 Unknown -/. g.37007004G>C - dbSNP MLH1_000003 rs28930073 - - Nur Aisyah Athirah MLH1 5 NM_000249.3:c.394G>C - r.(?) p.(Asp132His) - ClinVar
Legend   How to query