Individual #00000406

Reference Wei Xiong Wen et al. (2018)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
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 2021-02-09 10:07:48 +08:00 (CST)
Date last edited 2021-08-01 11:17:39 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000419 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.43051062C>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000080 rs80358041 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5332+1G>A - r.spl? p.? - ClinVar
17 Unknown +/. g.43067610G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000070 rs80357034 2/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5072C>A - r.(?) p.(Thr1691Lys) missense Likely pathogenic
17 Unknown +/. g.43082434G>A - Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0016), ClinVar BRCA1_000037 rs41293455 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.4327C>T - r.(?) p.(Arg1443*) - ClinVar
17 Unknown +/. g.43082503G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000014 rs80357305 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.4258C>T - r.(?) p.(Gln1420*) - ClinVar
17 Unknown +/. g.43090981G>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000054 rs80357071 2/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.4148C>G - r.(?) p.(Ser1383*) - ClinVar
17 Unknown +/. g.43091463_43091466delTTGA - Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0015), ClinVar BRCA1_000091 rs80357508 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.4065_4068delTCAA - r.(?) p.(Asn1355Lysfs*10) - ClinVar
17 Unknown +/. g.43091760_43091761delCT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000013 rs80357579 2/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3770_3771delAG - r.(?) p.(Glu1257Glyfs*9) - -
17 Unknown +/. g.43091882A>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000093 rs273900712 2/1726 VUS (variants of unknown significance.) Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3649T>C - r.(?) p.(Ser1217Pro) missense Uncertain significance
17 Unknown +/. g.43092107delC - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000090 rs1555587718 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3424delG - r.(?) p.(Ala1142Hisfs*13) - ClinVar
17 Unknown +/. g.43092896C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000077 rs80357251 2/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.2635G>T - r.(?) p.(Glu879*) - ClinVar
17 Unknown +/. g.43094023_43094027delTTTAA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000089 rs80357888 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.1504_1508delTTAAA - r.(?) p.(Leu502Alafs*2) - ClinVar
17 Unknown +/. g.43094427delT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000088 rs886039927 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.1104delA - r.(?) p.(Asp369Metfs*5) - -
17 Unknown +/. g.43094549_43094550delAT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000010 rs80357772 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.981_982delAT - r.(?) p.(Cys328*) - ClinVar
17 Unknown +/. g.43095924T>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000068 rs80358033 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.594-2A>G - r.spl? p.? - ClinVar
17 Unknown +/. g.43099851_43099852delAG - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000009 rs80357887 2/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.470_471delCT - r.(?) p.(Ser157*) - ClinVar
17 Unknown +/. g.43104968T>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000019 rs80358163 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.213-12A>G - r.(=) p.(=) - ClinVar
17 Unknown +/. g.43106478A>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000092 rs80357064 1/1762 VUS (variants of unknown significance.) Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.190T>C - r.(?) p.(Cys64Arg) missense Pathogenic​
17 Unknown +/. g.43115724delA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000087 rs273897657 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.134+2delT - r.spl? p.? - -
17 Unknown +/. g.43115725C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000086 rs80358043 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.134+1G>T - r.spl? p.? - ClinVar
17 Unknown +/. g.43124031dupT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000008 rs80357783 1/1726 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.66dupA - r.(?) p.(Glu23Argfs*18) - ClinVar
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