chr22:19969258:G>A Detail (hg38) (ARVCF, COMT)

Information

Genome

Assembly Position
hg19 chr22:19,956,781-19,956,781 View the variant detail on this assembly version.
hg38 chr22:19,969,258-19,969,258

HGVS

Type Transcript Protein
RefSeq NM_000754.3:c.*522G>A
Ensemble ENST00000361682.11:c.*522G>A
ENST00000678255.1:c.*522G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.556
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 116790 OMIM
HGNC 2228 HGNC
Ensembl ENSG00000093010 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65380704 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2018-04-28 no assertion criteria provided somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.178 attention deficit hyperactivity disorder We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs... BeFree 24163823 Detail
0.002 bronchopulmonary dysplasia These data suggest that COMT genetic variation at SNP rs165599 is associated wit... BeFree 17547583 Detail
0.006 Hallucinations The SNP rs165599, which has been mapped to the 3'-UTR region of the COMT gene, w... BeFree 19369177 Detail
0.002 borderline personality disorder These data suggest that COMT genetic variation at SNP rs165599 is associated wit... BeFree 17547583 Detail
0.345 schizophrenia We find that P50 and PPI may be influenced by COMT rs4680 polymorphisms in schiz... BeFree 23598060 Detail
0.345 schizophrenia A common functional polymorphism, Val108/158Met (rs4680), and haplotypes rs73786... BeFree 19329282 Detail
0.012 schizophrenia We find that P50 and PPI may be influenced by COMT rs4680 polymorphisms in schiz... BeFree 23598060 Detail
0.345 schizophrenia Association study between the rs165599 catechol-O-methyltransferase genetic poly... BeFree 23295417 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000754.4(COMT):c.*522G>A AND Tramadol response ClinVar Detail
We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs1800496, rs1801028, ... DisGeNET Detail
These data suggest that COMT genetic variation at SNP rs165599 is associated with BPD I and influenc... DisGeNET Detail
The SNP rs165599, which has been mapped to the 3'-UTR region of the COMT gene, was significantly ass... DisGeNET Detail
These data suggest that COMT genetic variation at SNP rs165599 is associated with BPD I and influenc... DisGeNET Detail
We find that P50 and PPI may be influenced by COMT rs4680 polymorphisms in schizophrenia; more excit... DisGeNET Detail
A common functional polymorphism, Val108/158Met (rs4680), and haplotypes rs737865-rs4680-rs165599 in... DisGeNET Detail
We find that P50 and PPI may be influenced by COMT rs4680 polymorphisms in schizophrenia; more excit... DisGeNET Detail
Association study between the rs165599 catechol-O-methyltransferase genetic polymorphism and schizop... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs165599 dbSNP
Genome
hg38
Position
chr22:19,969,258-19,969,258
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs165599
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5557
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9313
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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