Individual #00000146

Reference Nurul-Syakima Ab Mutalib et al. (2014)
Gender F
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases HGSOC
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     
0000000161 DNA SEQ-NG;PCR PDGFRA 3 Nuur Athirah Binti Mohd Daud



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     
4 Both (homozygous) -/. g.54274888A>G 55141055A > G Nurul-Syakima Ab Mutalib et al. (2014)dbSNP PDGFRA_000001 rs1873778 9 - Nuur Athirah Binti Mohd Daud PDGFRA - NM_006206.5:c.1701A>G - r.(=) p.(=) - ClinVar
4 Unknown -/. g.54285873C>T 55152040C>T Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar PDGFRA_000002 rs2228230 3/9 - Nuur Athirah Binti Mohd Daud PDGFRA - NM_006206.5:c.2472C>T - r.(=) p.(=) - ClinVar
4 Both (homozygous) -/. g.54285873C>T 55152040C>T Nurul-Syakima Ab Mutalib et al. (2014), dbSNP, ClinVar PDGFRA_000002 rs2228230 1/9 - Nuur Athirah Binti Mohd Daud PDGFRA - NM_006206.5:c.2472C>T - r.(=) p.(=) - ClinVar
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