Variant #0000274318 (NC_000022.10:g.19950235C>T, NM_000754.3:c.186C>T (COMT))

Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.19950235C>T
DNA change (hg38) g.19962712C>T
Published as COMT(NM_000754.3):c.186C>T (p.H62=), COMT(NM_000754.4):c.186C>T (p.H62=)
ISCN -
DB-ID COMT_000006 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.46483 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COMT NM_000754.3 -/. - c.186C>T r.(?) p.(His62=)
ARVCF NM_001670.2 -/. - c.*8044G>A r.(=) p.(=)
TXNRD2 NM_006440.3 -/. - c.-20909G>A r.(?) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.