chr22:19950317:A>G Detail (hg19) (COMT)

Information

Genome

Assembly Position
hg19 chr22:19,950,317-19,950,317
hg38 chr22:19,962,794-19,962,794 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000754.3:c.268A>G NP_000745.1:p.Met90Val
NM_001135162.1:c.268A>G NP_001128634.1:p.Met90Val
NM_007310.2:c.118A>G NP_009294.1:p.Met40Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
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 tgv65380243 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 Pain Single-nucleotide polymorphisms in OPRM1 gene (opioid receptor, A118G), ABCB1 ge... BeFree 25576257 Detail
0.102 Pain Single-nucleotide polymorphisms in OPRM1 gene (opioid receptor, A118G), ABCB1 ge... BeFree 25576257 Detail
0.236 Pain Single-nucleotide polymorphisms in OPRM1 gene (opioid receptor, A118G), ABCB1 ge... BeFree 25576257 Detail
Annotation

Annotations

DescrptionSourceLinks
Single-nucleotide polymorphisms in OPRM1 gene (opioid receptor, A118G), ABCB1 gene (opioid transport... DisGeNET Detail
Single-nucleotide polymorphisms in OPRM1 gene (opioid receptor, A118G), ABCB1 gene (opioid transport... DisGeNET Detail
Single-nucleotide polymorphisms in OPRM1 gene (opioid receptor, A118G), ABCB1 gene (opioid transport... 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
chr22:19,950,317-19,950,317
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1198
Mean of sample read depth (HGVD)
42.01
Standard deviation of sample read depth (HGVD)
19.25
Number of reference allele (HGVD)
2394
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.347245409015025E-4
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))
rs373611092
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
14
East Asian Heterozygous Counts (ExAC)
14
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0016226240148354196
Chromosome Counts in All Race (ExAC)
118686
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1795831016295098E-4
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