Variant #0000248933 (NC_000022.10:g.19969106A>G, NM_000754.3:c.*12847A>G (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.19969106A>G
DNA change (hg38) g.19981583A>G
Published as ARVCF(NM_001670.3):c.524T>C (p.V175A)
ISCN -
DB-ID ARVCF_000012
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) 0.38314 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COMT NM_000754.3 -/. - c.*12847A>G r.(=) p.(=)
ARVCF NM_001670.2 -/. - c.524T>C r.(?) p.(Val175Ala)


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