chr22:19963684:C>G Detail (hg38) (COMT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:19,951,207-19,951,207 View the variant detail on this assembly version. |
| hg38 | chr22:19,963,684-19,963,684 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000754.3:c.408C>G | NP_000745.1:p.Leu136= |
| NM_001135162.1:c.408C>G | NP_001128634.1:p.Leu136= | |
| NM_007310.2:c.258C>G | NP_009294.1:p.Leu86= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.300 |
| ToMMo:0.285 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.325 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
drug response
|
2018-04-28 | no assertion criteria provided |
somatic
|
Detail | |
|
Benign
|
2021-05-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
| Uncertain risk allele | 2023-01-16 | no assertion criteria provided | methamphetamine use disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.023 | fibromyalgia | These results suggest that SNPs rs4680 and rs4818 of the COMT gene may be associ... | BeFree | 21120493 | Detail |
| 0.001 | nervous system disorder | Genotyping of rs4680 and rs4818 Catechol-O-Methyltransferase gene polymorphisms ... | BeFree | 25929431 | Detail |
| 0.004 | Migraine Disorders | Look beyond Catechol-O-Methyltransferase genotype for cathecolamines derangement... | BeFree | 25929431 | Detail |
| <0.001 | Coronary Arteriosclerosis | Rs4680 effects were confirmed with COMT polymorphism rs4818 and also examined in... | BeFree | 25035343 | Detail |
| <0.001 | Coronary heart disease | Rs4680 effects were confirmed with COMT polymorphism rs4818 and also examined in... | BeFree | 25035343 | Detail |
| 0.003 | Vomiting | The COMT rs4818 polymorphism may prove useful in predicting emesis medication us... | BeFree | 25185591 | Detail |
| <0.001 | coronary artery disease | Rs4680 effects were confirmed with COMT polymorphism rs4818 and also examined in... | BeFree | 25035343 | Detail |
| 0.014 | Mood Disorders | [Tolcapone effects on gating, working memory, and mood interact with the synonym... | GAD | 19699472 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000754.4(COMT):c.408C>G (p.Leu136=) AND not specified | ClinVar | Detail |
| NM_000754.4(COMT):c.408C>G (p.Leu136=) AND Tramadol response | ClinVar | Detail |
| NM_000754.4(COMT):c.408C>G (p.Leu136=) AND not provided | ClinVar | Detail |
| NM_000754.4(COMT):c.408C>G (p.Leu136=) AND methamphetamine use disorder | ClinVar | Detail |
| These results suggest that SNPs rs4680 and rs4818 of the COMT gene may be associated with fibromyalg... | DisGeNET | Detail |
| Genotyping of rs4680 and rs4818 Catechol-O-Methyltransferase gene polymorphisms was performed on 380... | DisGeNET | Detail |
| Look beyond Catechol-O-Methyltransferase genotype for cathecolamines derangement in migraine: the Bi... | DisGeNET | Detail |
| Rs4680 effects were confirmed with COMT polymorphism rs4818 and also examined in Coronary ARtery DIs... | DisGeNET | Detail |
| Rs4680 effects were confirmed with COMT polymorphism rs4818 and also examined in Coronary ARtery DIs... | DisGeNET | Detail |
| The COMT rs4818 polymorphism may prove useful in predicting emesis medication use postoperatively. | DisGeNET | Detail |
| Rs4680 effects were confirmed with COMT polymorphism rs4818 and also examined in Coronary ARtery DIs... | DisGeNET | Detail |
| [Tolcapone effects on gating, working memory, and mood interact with the synonymous catechol-O-methy... | 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
- rs4818 dbSNP
- Genome
- hg38
- Position
- chr22:19,963,684-19,963,684
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1192
- Mean of sample read depth (HGVD)
- 44.85
- Standard deviation of sample read depth (HGVD)
- 23.09
- Number of reference allele (HGVD)
- 1668
- Number of alternative allele (HGVD)
- 716
- Allele Frequency (HGVD)
- 0.30033557046979864
- Gene Symbol (HGVD)
- COMT
- 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))
- rs4818
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2854
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4782
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8506
- East Asian Allele Counts (ExAC)
- 2761
- East Asian Heterozygous Counts (ExAC)
- 1927
- East Asian Homozygous Counts (ExAC)
- 417
- East Asian Allele Frequency (ExAC)
- 0.3245944039501528
- Chromosome Counts in All Race (ExAC)
- 119474
- Allele Counts in All Race (ExAC)
- 40522
- Heterozygous Counts in All Race (ExAC)
- 26184
- Homozygous Counts in All Race (ExAC)
- 7169
- Allele Frequency in All Race (ExAC)
- 0.339170028625475
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