Individual #00000292

Reference Boon Pin Kee et al. (2020)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CD
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 2020-12-21 15:26:16 +08:00 (CST)
Date last edited 2020-12-22 17:08:46 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000307 DNA TaqMan IRGM 5 Nuur Athirah Binti Mohd Daud



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     
5 Unknown +/. g.150848404C>A - Boon Pin Kee et al. (2020), dbSNP IRGM_000003 rs72553867 9/27 - Nuur Athirah Binti Mohd Daud IRGM - NM_001346557.1:c.281C>A - r.(?) p.(Thr94Lys) - -
5 Unknown +/. g.150860025G>A - Boon Pin Kee et al. (2020), dbSNP IRGM_000001 rs4958847 14/27 - Nuur Athirah Binti Mohd Daud IRGM - NM_001346557.1:c.531+11371G>A - r.(=) p.(=) - -
5 Both (homozygous) +/. g.150860025G>A - Boon Pin Kee et al. (2020), dbSNP IRGM_000001 rs4958847 9/27 - Nuur Athirah Binti Mohd Daud IRGM - NM_001346557.1:c.531+11371G>A - r.(=) p.(=) - -
5 Unknown +/. g.150879305A>G - Boon Pin Kee et al. (2020), dbSNP IRGM_000002 rs11747270 17/27 - Nuur Athirah Binti Mohd Daud IRGM - NM_001346557.1:c.532-280A>G - r.(=) p.(=) - -
5 Both (homozygous) +/. g.150879305A>G - Boon Pin Kee et al. (2020), dbSNP IRGM_000002 rs11747270 3/27 - Nuur Athirah Binti Mohd Daud IRGM - NM_001346557.1:c.532-280A>G - r.(=) p.(=) - -
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