Individual #00000104

Reference Xiaohong R Yang et al. (2017)
Gender F
Geographic origin Malaysia
Ethnic origin -
Population Sarawak
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 09:34:22 +08:00 (CST)
Date last edited 2020-12-01 10:11:25 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000119 DNA MLPA;SEQ BRCA1 9 Nuur Athirah Binti Mohd Daud



Variants

9 entries on 1 page. Showing entries 1 - 9.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

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Gene     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
17 Unknown +/. g.43045722del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000064 rs397509296 1/13 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5548del - r.(?) p.(Leu1850Trpfs*5) - ClinVar
17 Unknown +/. g.43049192del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000056 rs80357590 2/13 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5335del - r.(?) p.(Gln1779Asnfs*14) - ClinVar
17 Unknown +/. g.43091924G>A - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000057 rs62625308 1/13 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3607C>T - r.(?) p.(Arg1203*) - ClinVar
17 Unknown +/. g.43092302_43092303del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000058 rs80357635 1/13 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3228_3229del - r.(?) p.(Gly1077Alafs*8) - ClinVar
17 Unknown +/. g.43092317del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000059 rs80357923 2/13 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3214del - r.(?) p.(Leu1072*) - ClinVar
17 Unknown +/. g.43094391dup - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000060 rs876659327 1/13 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.1140dup - r.(?) p.(Lys381Glufs*3) - ClinVar
17 Unknown +/. g.43106457T>C - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000061 rs80357382 1/13 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.211A>G - r.(?) p.(Arg71Gly) - ClinVar
17 Unknown +/. g.43106486C>T - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000062 rs80357093 1/13 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.182G>A - r.(?) p.(Cys61Tyr) - ClinVar
17 Unknown +/. g.43115750G>T - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000063 rs80356880 1/13 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.110C>A - r.(?) p.(Thr37Lys) - ClinVar
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