Variant #0000001553 (NC_000020.11:g.46011586A>G, NM_004994.2:c.836A>G (MMP9))

Individual ID 00000332
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.46011586A>G
Published as R279Q
Reference Atheer Awad Mehde et al. (2018), dbSNP, ClinVar
DB-ID MMP9_000002 See all 4 reported entries
dbSNP ID rs17576
Frequency 22/120
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner 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 2021-01-06 14:56:27 +08:00 (CST)
Date last edited 2021-09-01 12:18:29 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
MMP9 NM_004994.2 -/. - c.836A>G - r.(?) p.(Gln279Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000347 DNA PCR MMP9 4 Nuur Athirah Binti Mohd Daud