Individual #00000408

Reference Wei Xiong Wen et al. (2018)
Gender -
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 2021-02-15 08:53:24 +08:00 (CST)
Date last edited 2021-08-01 11:21:49 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000423 DNA MLPA;SEQ-NG-I BRCA1 20 Nuur Athirah Binti Mohd Daud



Variants

20 entries on 1 page. Showing entries 1 - 20.
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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.43045767G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000074 rs41293465 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5503C>T - r.(?) p.(Arg1835*) - ClinVar
17 Unknown +/. g.43045781G>T - Wei Xiong Wen et al. (2018), ClinVar BRCA1_000104 - 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5489C>A - r.(?) p.(Ala1830Glu) missense -
17 Unknown +/. g.43051067dupG - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000101 rs80357751 2/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5328dupC - r.(?) p.(Thr1777Hisfs*53) - ClinVar
17 Unknown +/. g.43067625T>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000105 rs730882166 2/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5057A>G - r.(?) p.(His1686Arg) missense Pathogenic​
17 Unknown +/. g.43090944C>A - Wei Xiong Wen et al. (2018) BRCA1_000103 rs115418729 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.4185G>T - r.(?) p.(Gln1395His) - -
17 Unknown +/. g.43091661_43091662del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000100 rs80357918 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3869_3870del - r.(?) p.(Lys1290Metfs*4) - ClinVar
17 Unknown +/. g.43091675delT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000099 rs80357855 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3856delA - r.(?) p.(Ser1286Valfs*21) - ClinVar
17 Unknown +/. g.43091807T>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000102 rs80357037 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3724A>G - r.(?) p.(Thr1242Ala) missense Benign
17 Unknown +/. g.43092205_43092208del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000098 rs80357763 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3323_3326del - r.(?) p.(Ile1108Lysfs*8) - ClinVar​
17 Unknown +/. g.43092242_43092243del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000097 rs80357686 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3288_3289del - r.(?) p.(Leu1098Serfs*4) - ClinVar
17 Unknown +/. g.43092522_43092523del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000096 rs80357617 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3008_3009del - r.(?) p.(Phe1003*) - ClinVar
17 Unknown +/. g.43092896C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000077 rs80357251 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.2635G>T - r.(?) p.(Glu879*) - ClinVar
17 Unknown +/. g.43093460_43093461del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000095 rs80357688 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.2070_2071del - r.(?) p.(Arg691Thrfs*2) - ClinVar
17 Unknown +/. g.43094327C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000050 rs273897655 2/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.1204G>T - r.(?) p.(Glu402*) - ClinVar
17 Unknown +/. g.43094805delA - Wei Xiong Wen et al. (2018) BRCA1_000065 - 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.726delT - r.(?) p.(Ser242Argfs*5) - -
17 Unknown +/. g.43094844_43094845delAG - Wei Xiong Wen et al. (2018) BRCA1_000043 rs746766787 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.686_687delCT - r.(?) p.(Ser229*) - -
17 Unknown +/. g.43099789A>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000106 rs876660085 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.533T>A - r.(?) p.(Val178Asp) missense Uncertain significance
17 Unknown +/. g.43099817G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000094 rs80357133 1/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.505C>T - r.(?) p.(Gln169*) - ClinVar
17 Unknown +/. g.43104953G>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000107 rs80356967 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.216C>G - r.(?) p.(Ser72Arg) missense Uncertain significance
17 Unknown +/. g.43115745A>G C39R Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000044 rs80357164 2/490 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.115T>C C39R r.(?) p.(Cys39Arg) frameshift ClinVar
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