Individual #00000316

Reference Polin Haghvirdizadeh et al. (2015)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases T2DM
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 2021-01-04 15:03:11 +08:00 (CST)
Date last edited 2021-01-04 16:51:48 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000331 DNA PCR ABCA1 6 Nuur Athirah Binti Mohd Daud



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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     
9 Unknown +/. g.104858554G>A R230C Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000003 rs9282541 72/164 - Nuur Athirah Binti Mohd Daud ABCA1 - NM_005502.3:c.688C>T - r.(?) p.(Arg230Cys) - ClinVar
9 Both (homozygous) +/. g.104858554G>A R230C Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000003 rs9282541 32/164 - Nuur Athirah Binti Mohd Daud ABCA1 - NM_005502.3:c.688C>T - r.(?) p.(Arg230Cys) - ClinVar
9 Unknown +/. g.104858586C>T R219K Polin Haghvirdizadeh et al. (2015), dbSNP, (OMIM 0024), ClinVar ABCA1_000001 rs2230806 55/164 - Nuur Athirah Binti Mohd Daud ABCA1 - NM_005502.3:c.656G>A - r.(?) p.(Arg219Lys) - ClinVar
9 Both (homozygous) +/. g.104858586C>T R219K Polin Haghvirdizadeh et al. (2015), dbSNP, (OMIM 0024), ClinVar ABCA1_000001 rs2230806 15/164 - Nuur Athirah Binti Mohd Daud ABCA1 - NM_005502.3:c.656G>A - r.(?) p.(Arg219Lys) - ClinVar
9 Unknown +/. g.104928169G>A C69T Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000002 rs1800977 48/164 - Nuur Athirah Binti Mohd Daud ABCA1 - NM_005502.3:c.-327C>T - r.(=) p.(=) - ClinVar
9 Both (homozygous) +/. g.104928169G>A C69T Polin Haghvirdizadeh et al. (2015), dbSNP, ClinVar ABCA1_000002 rs1800977 51/164 - Nuur Athirah Binti Mohd Daud ABCA1 - NM_005502.3:c.-327C>T - r.(=) p.(=) - ClinVar
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