Individual #00000105

Reference Xiaohong R Yang et al. (2017)
Gender F
Geographic origin Malaysia
Ethnic origin -
Population Sarawak
Remarks -
Microattribution -
Panel size 1
Diseases BRCA2
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 10:36:37 +08:00 (CST)
Date last edited 2020-11-24 16:22:04 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000120 DNA MLPA;SEQ BRCA2 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     
13 Unknown +/. g.32326564G>A - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000059 rs80358810 1/15 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.582G>A - r.(?) p.(Trp194*) - ClinVar
13 Unknown +/. g.32330992_32330995del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000060 rs80359659 1/15 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.755_758del - r.(?) p.(Asp252Valfs*24) - ClinVar
13 Unknown +/. g.32333241_32333244del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000061 rs80359303 1/15 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.1763_1766del - r.(?) p.(Asn588Serfs*25) - ClinVar
13 Unknown +/. g.32333366dup - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000062 rs80359314 1/15 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.1888dup - r.(?) p.(Thr630Asnfs*6) - ClinVar
13 Unknown +/. g.32336797del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000063 rs397507627 1/15 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.2442del - r.(?) p.(Met815Trpfs*10) - ClinVar
13 Unknown +/. g.32337464C>T - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000054 rs80358557 1/15 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.3109C>T - r.(?) p.(Gln1037*) - ClinVar
13 Unknown +/. g.32339708_32339709del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000064 rs397507780 3/15 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5353_5354del - r.(?) p.(Thr1785*) - ClinVar
13 Unknown +/. g.32339931_32339934del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000065 rs80359520 1/15 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5576_5579del - r.(?) p.(Ile1859Lysfs*3) - ClinVar
13 Unknown +/. g.32379757_32379760del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000066 rs80359734 4/15 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.8961_8964del - r.(?) p.(Ser2988Phefs*12) - ClinVar
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