chr22:19963684:C>T Detail (hg38) (COMT)

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Summary
Information
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Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

COMT

Type	Transcript	Protein
RefSeq	NM_000754.3:c.408C>T	NP_000745.1:p.Leu136=
	NM_001135162.1:c.408C>T	NP_001128634.1:p.Leu136=
	NM_007310.2:c.258C>T	NP_009294.1:p.Leu86=
Ensemble	ENST00000361682.11:c.408C>T	ENST00000361682.11:p.Leu136=
	ENST00000403184.5:c.408C>T	ENST00000403184.5:p.Leu136=
	ENST00000403710.5:c.408C>T	ENST00000403710.5:p.Leu136=
	ENST00000406520.7:c.408C>T	ENST00000406520.7:p.Leu136=
	ENST00000407537.5:c.408C>T	ENST00000407537.5:p.Leu136=
	ENST00000428707.2:c.408C>T	ENST00000428707.2:p.Leu136=
	ENST00000449653.5:c.258C>T	ENST00000449653.5:p.Leu86=
	ENST00000676678.1:c.408C>T	ENST00000676678.1:p.Leu136=
	ENST00000678255.1:c.408C>T	ENST00000678255.1:p.Leu136=
	ENST00000678769.1:c.408C>T	ENST00000678769.1:p.Leu136=
	ENST00000678868.1:c.408C>T	ENST00000678868.1:p.Leu136=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

COMT

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

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
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: T

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