Individual #00000460

Reference Loo Keat Wei et al.(2015)
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 12:03:42 +08:00 (CST)
Date last edited 2021-08-01 13:08:04 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000501 DNA PCRm MTHFR 2 Nur Aisyah Athirah
0000000502 DNA PCRm NOS3 2 Nur Aisyah Athirah



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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.11794407T>G - Loo Keat Wei et al.(2015) MTHFR_000004 rs1801131 - - Nur Aisyah Athirah MTHFR - NM_005957.4:c.1298A>C - r.(?) p.(Glu433Ala) - benign
1 Unknown +/. g.11796321G>C - Loo Keat Wei et al.(2015) MTHFR_000003 rs1801133 - - Nur Aisyah Athirah MTHFR - NM_005957.4:c.665C>G - r.(?) p.(Ala222Gly) - benign
7 Unknown +/. g.150992991C>T - Loo Keat Wei et al.(2015) NOS3_000002 rs2070744 - - Nur Aisyah Athirah NOS3 - NM_000603.4:c.-51-762C>T - r.(=) p.(=) - -
7 Unknown +/. g.150999023T>G - Loo Keat Wei et al.(2015) NOS3_000001 rs1799983 - - Nur Aisyah Athirah NOS3 - NM_000603.4:c.894T>G - r.(?) p.(Asp298Glu) - pathogenic
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