Individual #00000283

Reference Boon Pin Kee et al. (2020)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
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 2020-12-20 16:23:11 +08:00 (CST)
Date last edited 2020-12-22 17:05:37 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000298 DNA TaqMan ATG16L1 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     
2 Unknown +/. g.233260305C>T - Boon Pin Kee et al. (2020), dbSNP ATG16L1_000003 rs6758317 7/20 - Nuur Athirah Binti Mohd Daud ATG16L1 - NM_030803.6:c.210-2825C>T - r.(=) p.(=) - -
2 Both (homozygous) +/. g.233260305C>T - Boon Pin Kee et al. (2020), dbSNP ATG16L1_000003 rs6758317 1/20 - Nuur Athirah Binti Mohd Daud ATG16L1 - NM_030803.6:c.210-2825C>T - r.(=) p.(=) - -
2 Unknown +/. g.233274722A>G - Boon Pin Kee et al. (2020), dbSNP, (OMIM 0001), ClinVar ATG16L1_000001 rs2241880 11/20 - Nuur Athirah Binti Mohd Daud ATG16L1 - NM_030803.6:c.898A>G - r.(?) p.(Thr300Ala) - -
2 Both (homozygous) +/. g.233274722A>G - Boon Pin Kee et al. (2020), dbSNP, (OMIM 0001), ClinVar ATG16L1_000001 rs2241880 5/20 - Nuur Athirah Binti Mohd Daud ATG16L1 - NM_030803.6:c.898A>G - r.(?) p.(Thr300Ala) - ClinVar
2 Unknown +/. g.233290815G>A - Boon Pin Kee et al. (2020), dbSNP ATG16L1_000002 rs6754677 8/20 - Nuur Athirah Binti Mohd Daud ATG16L1 - NM_030803.6:c.1430+462G>A - r.(=) p.(=) - -
2 Both (homozygous) +/. g.233290815G>A - Boon Pin Kee et al. (2020), dbSNP ATG16L1_000002 rs6754677 8/20 - Nuur Athirah Binti Mohd Daud ATG16L1 - NM_030803.6:c.1430+462G>A - r.(=) p.(=) - -
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