chr22:19947942:C>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	chr22:19,947,942-19,947,942
hg38	chr22:19,960,419-19,960,419 View the variant detail on this assembly version.

HGVS

COMT

Type	Transcript	Protein
RefSeq	NM_000754.3:c.-91-780C>A
	NM_001135162.1:c.-91-780C>A
Ensemble	ENST00000361682.11:c.-91-780C>A
	ENST00000403184.5:c.-91-780C>A
	ENST00000403710.5:c.-385-780C>A
	ENST00000406520.7:c.-91-780C>A
	ENST00000407537.5:c.-269-780C>A
	ENST00000428707.2:c.-91-780C>A
	ENST00000676678.1:c.-91-780C>A
	ENST00000678255.1:c.-921-780C>A
	ENST00000678769.1:c.-91-780C>A
	ENST00000678868.1:c.-91-780C>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
0.006	prostate carcinoma	According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and...	BeFree	24682418	Detail
0.005	prostate carcinoma	According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and...	BeFree	24682418	Detail
0.041	Malignant neoplasm of prostate	According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and...	BeFree	24682418	Detail
0.021	Malignant neoplasm of prostate	According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and...	BeFree	24682418	Detail

Annotation

Annotations

Descrption	Source	Links
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535...	DisGeNET	Detail
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535...	DisGeNET	Detail
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535...	DisGeNET	Detail
According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs16982844 dbSNP
Genome: hg19
Position: chr22:19,947,942-19,947,942
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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