Variant #0000001934 (NC_000022.11:g.19969258G>A, NM_000754.3:c.*522G>A (COMT))

Individual ID 00000413
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.19969258G>A
Published as -
Reference Shiau Foon Tee et al.(2012)
DB-ID COMT_000002
dbSNP ID rs165599
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-02-15 15:51:12 +08:00 (CST)
Date last edited 2021-04-18 10:56:52 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
COMT NM_000754.3 +/. - c.*522G>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000430 DNA PCR COMT 3 Nur Aisyah Athirah