Individual #00000461

Reference Keat Wei Loo et al.(2012)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases MTHFR
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-02-25 14:01:43 +08:00 (CST)
Date last edited 2021-08-01 13:08:16 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000503 DNA PCRm MTHFR 1 Nur Aisyah Athirah
0000000504 DNA PCRm NOS3 2 Nur Aisyah Athirah



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     
1 Unknown +/. g.11796321G>C - Ket Wei Loo et al.(2012) MTHFR_000003 rs1801133 - - Nur Aisyah Athirah MTHFR - NM_005957.4:c.665C>G - r.(?) p.(Ala222Gly) - benign
7 Unknown +/. g.150992991C>T - Keat Wei Loo et al.(2012) NOS3_000002 rs2070744 - - Nur Aisyah Athirah NOS3 - NM_000603.4:c.-51-762C>T - r.(=) p.(=) - -
7 Unknown +/. g.150999023T>G - Keat Wei Loo et al.(2012) NOS3_000001 rs1799983 - - Nur Aisyah Athirah NOS3 - NM_000603.4:c.894T>G - r.(?) p.(Asp298Glu) - pathogenic
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