Individual #00000319

Reference Farizeh Aalam Ghomi Tabatabae 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 15:27:03 +08:00 (CST)
Date last edited 2021-01-06 11:11:16 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000334 DNA PCR MMP9 4 Nuur Athirah Binti Mohd Daud



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     
20 Unknown +/. g.46007337C>T C1562T dbSNP MMP9_000001 rs3918242 85/133 - Nuur Athirah Binti Mohd Daud MMP9 - NM_004994.2:c.-1590C>T - r.(=) p.(=) - -
20 Both (homozygous) +/. g.46007337C>T C1562T dbSNP MMP9_000001 rs3918242 4/133 - Nuur Athirah Binti Mohd Daud MMP9 - NM_004994.2:c.-1590C>T - r.(=) p.(=) - -
20 Unknown +/. g.46011586A>G R279Q dbSNP, ClinVar MMP9_000002 rs17576 45/133 - Nuur Athirah Binti Mohd Daud MMP9 - NM_004994.2:c.836A>G - r.(?) p.(Gln279Arg) - ClinVar
20 Both (homozygous) +/. g.46011586A>G R279Q dbSNP, ClinVar MMP9_000002 rs17576 19/133 - Nuur Athirah Binti Mohd Daud MMP9 - NM_004994.2:c.836A>G - r.(?) p.(Gln279Arg) - ClinVar
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