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


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     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

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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