Variant #0000000077 (NC_000022.11:g.19963748G>A, NM_000754.3:c.472G>A (COMT))

Individual ID 00000011
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.19963748G>A
Published as -
Reference Wan CL et al. (2011)
DB-ID COMT_000001 See all 3 reported entries
dbSNP ID rs4680
Frequency 317
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2017-11-21 09:03:48 +08:00 (CST)
Date last edited 2021-09-12 15:20:14 +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 ?/. 4 c.472G>A - r.(?) p.(Val158Met) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000011 DNA PCR COMT 1 MyHVP