Individual #00000091

Reference M F Alina et al. (2020)
Gender F
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases G6PD
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 2020-10-26 14:18:46 +08:00 (CST)
Date last edited 2020-12-01 10:08:14 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000106 DNA PCRm G6PD 8 Nuur Athirah Binti Mohd Daud



Variants

8 entries on 1 page. Showing entries 1 - 8.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

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Variant remarks     

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Gene     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
X Unknown +/. g.154532269C>A G6PD Canton M F Alina et al. (2020), dbSNP, (OMIM 0021), ClinVar G6PD_000004 rs72554665 3/36 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.1466G>T G6PD Canton r.(?) p.(Arg489Leu) - ClinVar
X Unknown +/. g.154533122C>T G6PD Viangchan M F Alina et al. (2020), dbSNP, (OMIM 0026), ClinVar G6PD_000001 rs137852327 9/36 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.961G>A G6PD Viangchan r.(?) p.(Val321Met) - ClinVar
X Both (homozygous) +/. g.154533122C>T G6PD Viangchan M F Alina et al. (2020), dbSNP, (OMIM 0026), ClinVar G6PD_000001 rs137852327 2/36 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.961G>A G6PD Viangchan r.(?) p.(Val321Met) - ClinVar
X Unknown +/. g.154534390G>A G6PD Coimbra M F Alina et al. (2020), dbSNP, (OMIM 0031), ClinVar G6PD_000006 rs137852330 3/36 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.682C>T G6PD Coimbra r.(?) p.(Arg228Cys) - ClinVar
X Unknown +/. g.154534419G>A G6PD Mediterranean M F Alina et al. (2020), dbSNP, (OMIM 0006), ClinVar G6PD_000002 rs5030868 3/36 - Nuur Athirah Binti Mohd Daud G6PD 6 NM_000402.4:c.653C>T G6PD Mediterranean r.(?) p.(Ser218Phe) - ClinVar
X Unknown +/. g.154534495C>T G6PD Mahidol M F Alina et al. (2020), dbSNP, (OMIM 0005), ClinVar G6PD_000003 rs137852314 1/26 - Nuur Athirah Binti Mohd Daud G6PD 6 NM_000402.4:c.577G>A G6PD Mahidol r.(?) p.(Gly193Ser) - ClinVar
X Both (homozygous) +/. g.154534495C>T G6PD Mahidol M F Alina et al. (2020), dbSNP, (OMIM 0005), ClinVar G6PD_000003 rs137852314 12/36 - Nuur Athirah Binti Mohd Daud G6PD 6 NM_000402.4:c.577G>A G6PD Mahidol r.(?) p.(Gly193Ser) - ClinVar
X Unknown +/. g.154536168G>C G6PD Orissa M F Alina et al. (2020), dbSNP, (OMIM 0047), ClinVar G6PD_000007 rs78478128 1/36 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.221C>G G6PD Orissa r.(?) p.(Ala74Gly) - ClinVar
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