Individual #00000409

Reference Wen WX et al.(2018)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases BRCA1
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 2021-02-15 11:28:53 +08:00 (CST)
Date last edited 2021-06-28 12:41:26 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000424 DNA SEQ BRCA1 2 Nur Aisyah Athirah
0000000425 DNA ? BRCA2 1 Nur Aisyah Athirah



Variants

3 entries on 1 page. Showing entries 1 - 3.
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     
13 Unknown +/. g.32319271_32319272delCT - Wen WX, et al.(2018) BRCA2_000001 rs276174825 7/16 - Nur Aisyah Athirah BRCA2 - NM_000059.3:c.262_263delCT - r.(?) p.(Leu88Alafs*12) - pathogenic
17 Unknown +/. g.43092896C>A - Wen WX, et al.(2018), dbSNP, ClinVar BRCA1_000077 rs80357251 - - Nur Aisyah Athirah BRCA1 - NM_007294.3:c.2635G>T - r.(?) p.(Glu879*) - ClinVar
17 Unknown +/. g.43124028_43124029delCT - Wen WX, Allen J, Lai KN, et al.(2018) BRCA1_000007 rs80357914 4/17 - Nur Aisyah Athirah BRCA1 - NM_007294.3:c.68_69delAG - r.(?) p.(Glu23Valfs*17) - -
Legend   How to query