chr22:19950263:G>A Detail (hg19) (COMT)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr22:19,950,263-19,950,263
hg38	chr22:19,962,740-19,962,740 View the variant detail on this assembly version.

HGVS

COMT

Type	Transcript	Protein
RefSeq	NM_000754.3:c.214G>A	NP_000745.1:p.Ala72Thr
	NM_001135162.1:c.214G>A	NP_001128634.1:p.Ala72Thr
	NM_007310.2:c.64G>A	NP_009294.1:p.Ala22Thr
Ensemble	ENST00000361682.11:c.214G>A	ENST00000361682.11:p.Ala72Thr
	ENST00000403184.5:c.214G>A	ENST00000403184.5:p.Ala72Thr
	ENST00000403710.5:c.214G>A	ENST00000403710.5:p.Ala72Thr
	ENST00000406520.7:c.214G>A	ENST00000406520.7:p.Ala72Thr
	ENST00000407537.5:c.214G>A	ENST00000407537.5:p.Ala72Thr
	ENST00000428707.2:c.214G>A	ENST00000428707.2:p.Ala72Thr
	ENST00000449653.5:c.64G>A	ENST00000449653.5:p.Ala22Thr
	ENST00000676678.1:c.214G>A	ENST00000676678.1:p.Ala72Thr
	ENST00000678255.1:c.214G>A	ENST00000678255.1:p.Ala72Thr
	ENST00000678769.1:c.214G>A	ENST00000678769.1:p.Ala72Thr
	ENST00000678868.1:c.214G>A	ENST00000678868.1:p.Ala72Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

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
<0.001	homicidal	The purpose of our study is to examine the association between Ala72Ser and Val1...	BeFree	18163386	Detail
0.345	schizophrenia	Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of s...	BeFree	15645182	Detail
0.345	schizophrenia	Recently, a new functional single-nucleotide polymorphism in the COMT gene, Ala7...	BeFree	21860037	Detail
0.345	schizophrenia	New functional single nucleotide polymorphism (Ala72Ser) in the COMT gene is ass...	BeFree	18163386	Detail
<0.001	homicidal	Recently, a new functional single-nucleotide polymorphism in the COMT gene, Ala7...	BeFree	21860037	Detail

Annotation

Annotations

Descrption	Source	Links
The purpose of our study is to examine the association between Ala72Ser and Val158Met functional pol...	DisGeNET	Detail
Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Kore...	DisGeNET	Detail
Recently, a new functional single-nucleotide polymorphism in the COMT gene, Ala72Ser, was found to b...	DisGeNET	Detail
New functional single nucleotide polymorphism (Ala72Ser) in the COMT gene is associated with aggress...	DisGeNET	Detail
Recently, a new functional single-nucleotide polymorphism in the COMT gene, Ala72Ser, was found to b...	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: -
Genome: hg19
Position: chr22:19,950,263-19,950,263
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8626
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.3185717597959656E-4
Chromosome Counts in All Race (ExAC): 120152
Allele Counts in All Race (ExAC): 10
Heterozygous Counts in All Race (ExAC): 10
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.322791131233771E-5

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