Individual #00000543

Reference Ava Kwong et al.(2016)
Gender -
Geographic origin Malaysia
Ethnic origin Indian
Population -
Remarks -
Microattribution -
Panel size 1
Diseases Breast cancer
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 2021-03-24 14:30:34 +08:00 (CST)
Date last edited 2021-08-01 12:32:48 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000591 DNA SEQ BRCA1 11 Nur Aisyah Athirah
0000000595 DNA SEQ BRCA2 4 Nur Aisyah Athirah



Variants

15 entries on 1 page. Showing entries 1 - 15.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

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Variant remarks     

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Gene     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
13 Unknown +/. g.32333291dupA - Ava Kwong et al.(2016) BRCA2_000129 rs80359306 - Mutation type: Insertion - frameshift Nur Aisyah Athirah BRCA2 10 NM_000059.3:c.1813dupA - r.(?) p.(Ile605Asnfs*11) - Pathogenic
13 Unknown +/. g.32338220_32338223delAAAT - Ava Kwong et al.(2016) BRCA2_000130 rs80359412 - Mutation type: Deletion - frameshift Nur Aisyah Athirah BRCA2 11 NM_000059.3:c.3865_3868delAAAT - r.(?) p.(Lys1289Alafs*3) - Pathogenic
13 Unknown +/. g.32362694G>A - Ava Kwong et al.(2016) BRCA2_000040 rs81002873 - Mutation type: Intervening sequence Nur Aisyah Athirah BRCA2 IVS17 NM_000059.3:c.7976+1G>A - r.spl? p.? - Pathogenic
13 Unknown +/. g.32379431C>T - Ava Kwong et al.(2016) BRCA2_000011 rs276174913 - Mutation type: Nonsense Nur Aisyah Athirah BRCA2 22 NM_000059.3:c.8869C>T - r.(?) p.(Gln2957*) - Pathogenic
17 Unknown +/. g.43051096delA - Ava Kwong et al.(2016) BRCA1_000127 rs886040286 - Mutation type: Deletion - frameshif Nur Aisyah Athirah BRCA1 21 NM_007294.3:c.5299delT - r.(?) p.(Cys1767Valfs*26) - Pathogenic
17 Unknown +/. g.43057078G>A - Ava Kwong et al.(2016) BRCA1_000015 rs80357123 - Mutation type: Nonsense Nur Aisyah Athirah BRCA1 IVS18 NM_007294.3:c.5251C>T - r.(?) p.(Arg1751*) - Pathogenic
17 Unknown +/. g.43067607C>T - Ava Kwong et al.(2016) BRCA1_000117 rs80358053 - Mutation type: Intervening sequence Nur Aisyah Athirah BRCA1 IVS17 NM_007294.3:c.5074+1G>A - r.spl? p.? - Pathogenic
17 Unknown +/. g.43082434G>A - Ava Kwong et al.(2016) BRCA1_000037 rs41293455 - Mutation type: Nonsense Nur Aisyah Athirah BRCA1 13 NM_007294.3:c.4327C>T - r.(?) p.(Arg1443*) - Pathogenic
17 Unknown +/. g.43094477C>A - Ava Kwong et al.(2016) BRCA1_000109 rs80357472 - Mutation type: Nonsense Nur Aisyah Athirah BRCA1 11 NM_007294.3:c.1054G>T - r.(?) p.(Glu352*) - Pathogenic
17 Unknown +/. g.43094681G>A - Ava Kwong et al.(2016) BRCA1_000123 rs397509330 - Mutation type: Nonsense Nur Aisyah Athirah BRCA1 11 NM_007294.3:c.850C>T - r.(?) p.(Gln284*) - Pathogenic
17 Unknown +/. g.43094701_43094702delTT - Ava Kwong et al.(2016) BRCA1_000126 rs886040323 - Mutation type: Deletion - frameshif Nur Aisyah Athirah BRCA1 11 NM_007294.3:c.829_830delAA - r.(?) p.(Asn277Tyrfs*9) - Pathogenic
17 Unknown +/. g.43106518delT - Ava Kwong et al.(2016) BRCA1_000125 rs273897662 - Mutattion type: Deletion - frameshift Nur Aisyah Athirah BRCA1 5 NM_007294.3:c.150delA - r.(?) p.(Lys50Asnfs*19) - Pathogenic
17 Unknown +/. g.43106534C>G - Ava Kwong et al.(2016) BRCA1_000084 rs80358158 - Mutation type: Intervening sequence Nur Aisyah Athirah BRCA1 IVS4 NM_007294.3:c.135-1G>C - r.spl? p.? - Pathogenic
17 Unknown +/. g.43124028_43124029delCT - Ava Kwong et al.(2016) BRCA1_000007 rs80357914 - Mutation type: Deletion - frameshif Nur Aisyah Athirah BRCA1 2 NM_007294.3:c.68_69delAG - r.(?) p.(Glu23Valfs*17) - Pathogenic
17 Unknown +/. g.43124036delT - Ava Kwong et al.(2016) BRCA1_000006 rs273902778 - Mutation type: Deletion - frameshift Nur Aisyah Athirah BRCA1 2 NM_007294.3:c.61delA - r.(?) p.(Ile21Serfs*2) - Pathogenic
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