Individual #00000320

Reference Farizeh Aalam Ghomi Tabatabaee et al. (2018)
Gender M
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases EH
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 2021-01-05 15:43:13 +08:00 (CST)
Date last edited 2021-01-06 11:12:43 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000335 DNA PCR MMP12 2 Nuur Athirah Binti Mohd Daud



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
11 Unknown +/. g.102874856T>C - dbSNP MMP12_000001 rs2276109 7/133 - Nuur Athirah Binti Mohd Daud MMP12 - NM_002426.5:c.82A>G - r.(?) p.(Asn28Asp) - -
11 Both (homozygous) +/. g.102874856T>C - dbSNP MMP12_000001 rs2276109 1/133 - Nuur Athirah Binti Mohd Daud MMP12 - NM_002426.5:c.82A>G - r.(?) p.(Asn28Asp) - -
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