chr22:19962740:G>T Detail (hg38) (COMT)

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Information

Genome

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

Summary

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	tgv65380230	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
risk factor	2005-03-01	no assertion criteria provided	Schizophrenia, susceptibility to	germline	Detail
drug response	2018-04-28	no assertion criteria provided		somatic	Detail

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

Descrption	Source	Links
NM_000754.4(COMT):c.214G>T (p.Ala72Ser) AND Schizophrenia, susceptibility to	ClinVar	Detail
NM_000754.4(COMT):c.214G>T (p.Ala72Ser) AND Tramadol response	ClinVar	Detail
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

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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs6267 dbSNP
Genome: hg38
Position: chr22:19,962,740-19,962,740
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Filtering Status (HGVD): PASS
# of samples (HGVD): 1202
Mean of sample read depth (HGVD): 54.36
Standard deviation of sample read depth (HGVD): 25.92
Number of reference allele (HGVD): 2177
Number of alternative allele (HGVD): 227
Allele Frequency (HGVD): 0.09442595673876872
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)): rs6267
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.082
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1375
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8626
East Asian Allele Counts (ExAC): 437
East Asian Heterozygous Counts (ExAC): 403
East Asian Homozygous Counts (ExAC): 17
East Asian Allele Frequency (ExAC): 0.05066079295154185
Chromosome Counts in All Race (ExAC): 120152
Allele Counts in All Race (ExAC): 1405
Heterozygous Counts in All Race (ExAC): 1343
Homozygous Counts in All Race (ExAC): 31
Allele Frequency in All Race (ExAC): 0.011693521539383448

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