Individual #00000546

Reference Ava Kwong et al.(2016)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
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 14:53:02 +08:00 (CST)
Date last edited 2021-08-01 12:33:12 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000594 DNA SEQ BRCA1 9 Nur Aisyah Athirah
0000000597 DNA SEQ BRCA2 7 Nur Aisyah Athirah



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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     
13 Unknown +/. g.32319271_32319272delCT - Ava Kwong et al.(2016) BRCA2_000001 rs276174825 - Mutation type: Deletion - frameshift Nur Aisyah Athirah BRCA2 3 NM_000059.3:c.262_263delCT - r.(?) p.(Leu88Alafs*12) - Pathogenic
13 Unknown +/. g.32336826_32336831delTAAATG - Ava Kwong et al.(2016) BRCA2_000004 rs276174823 - Mutation type: Deletion - frameshift Nur Aisyah Athirah BRCA2 11 NM_000059.3:c.2471_2476delTAAATG - r.(?) p.(Leu824*) - Pathogenic
13 Unknown +/. g.32337163_32337166delACAA - Ava Kwong et al.(2016) BRCA2_000132 rs80359351 - Mutation type: Deletion - frameshift Nur Aisyah Athirah BRCA2 11 NM_000059.3:c.2808_2811delACAA - r.(?) p.(Ala938Profs*21) - Pathogenic
13 Unknown +/. g.32338392_32338393delCT - Ava Kwong et al.(2016) BRCA2_000006 rs80359421 - Mutation type: Deletion - frameshift Nur Aisyah Athirah BRCA2 11 NM_000059.3:c.4037_4038delCT - r.(?) p.(Thr1346Serfs*5) - Pathogenic
13 Unknown +/. g.32340322dupA - Ava Kwong et al.(2016) BRCA2_000007 rs276174865 - Mutation type: Insertion - frameshift Nur Aisyah Athirah BRCA2 11 NM_000059.3:c.5967dupA - r.(?) p.(Asp1990Argfs*13) - Pathogenic
13 Unknown +/. g.32340896G>T - Ava Kwong et al.(2016) BRCA2_000119 rs371067421 - Mutation type: Nonsense Nur Aisyah Athirah BRCA2 11 NM_000059.3:c.6541G>T - r.(?) p.(Gly2181*) - Pathogenic
13 Unknown +/. g.32357797_32357798delAG - Ava Kwong et al.(2016) BRCA2_000137 rs80359672 - Mutation type: Deletion - frameshift Nur Aisyah Athirah BRCA2 16 NM_000059.3:c.7673_7674delAG - r.(?) p.(Glu2558Valfs*7) - Pathogenic
17 Unknown +/. g.43051067dupG - Ava Kwong et al.(2016) BRCA1_000101 rs80357751 - Mutation type: Insertion - frameshift Nur Aisyah Athirah BRCA1 21 NM_007294.3:c.5328dupC - r.(?) p.(Thr1777Hisfs*53) - Pathogenic
17 Unknown +/. g.43063374C>T - Ava Kwong et al.(2016) BRCA1_000075 rs80358137 - Mutation type: Intervening sequence Nur Aisyah Athirah BRCA1 IVS18 NM_007294.3:c.5153-1G>A - r.spl? p.? - Pathogenic
17 Unknown +/. g.43091675delT - Ava Kwong et al.(2016) BRCA1_000099 rs80357855 - Mutation type: Deletion - frameshift Nur Aisyah Athirah BRCA1 11 NM_007294.3:c.3856delA - r.(?) p.(Ser1286Valfs*21) - Pathogenic
17 Unknown +/. g.43092805dupT - Ava Kwong et al.(2016) BRCA1_000036 rs80357614 - Mutation type: Insertion - frameshift Nur Aisyah Athirah BRCA1 11 NM_007294.3:c.2726dupA - r.(?) p.(Asn909Lysfs*6) - Pathogenic
17 Unknown +/. g.43092896C>A - Ava Kwong et al.(2016) BRCA1_000077 rs80357251 - Mutation type: Nonsense Nur Aisyah Athirah BRCA1 11 NM_007294.3:c.2635G>T - r.(?) p.(Glu879*) - Pathogenic
17 Unknown +/. g.43093472G>A - Ava Kwong et al.(2016) BRCA1_000072 rs273898674 - Mutation type: Nonsense Nur Aisyah Athirah BRCA1 11 NM_007294.3:c.2059C>T - r.(?) p.(Gln687*) - Pathogenic
17 Unknown +/. g.43093535delG - Ava Kwong et al.(2016) BRCA1_000130 rs80357922 - Mutation type: Deletion - frameshif Nur Aisyah Athirah BRCA1 11 NM_007294.3:c.1996delC - r.(?) p.(Leu666Tyrfs*35) - Pathogenic
17 Unknown +/. g.43094327C>A - Ava Kwong et al.(2016) BRCA1_000050 rs273897655 - Mutation type: Nonsense Nur Aisyah Athirah BRCA1 11 NM_007294.3:c.1204G>T - r.(?) p.(Glu402*) - Pathogenic
17 Unknown +/. g.43099817G>A - Ava Kwong et al.(2016) BRCA1_000094 rs80357133 - Mutattion type: Nonsense Nur Aisyah Athirah BRCA1 8 NM_007294.3:c.505C>T - r.(?) p.(Gln169*) - Pathogenic
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