Individual #00000106

Reference P S Ng et al. (2016)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases BRCA1
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-01 15:05:32 +08:00 (CST)
Date last edited 2020-12-01 10:06:06 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000121 DNA SEQ BRCA1 2 Nuur Athirah Binti Mohd Daud



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
17 Unknown +/. g.43094844_43094845delAG - P S Ng et al. (2016)dbSNP BRCA1_000043 rs746766787 1/2 - Nuur Athirah Binti Mohd Daud BRCA1 11 NM_007294.3:c.686_687delCT - r.(?) p.(Ser229*) - ClinVar
17 Unknown +/. g.43115745A>G - P S Ng et al. (2016), dbSNP, ClinVar BRCA1_000044 rs80357164 1/2 - Nuur Athirah Binti Mohd Daud BRCA1 3 NM_007294.3:c.115T>C - r.(?) p.(Cys39Arg) - ClinVar
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