chr22:42525175:G>A Detail (hg19) (CYP2D6)

Information

Genome

Assembly Position
hg19 chr22:42,525,175-42,525,175
hg38 chr22:42,129,173-42,129,173 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001025161.2:c.353-229C>T
Ensemble ENST00000359033.4:c.353-229C>T
ENST00000645361.2:c.365C>T ENST00000645361.2:p.Ala122Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
Type Database ID Link
Gene MIM 124030 OMIM
HGNC 2625 HGNC
Ensembl ENSG00000100197 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66049799 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
0.003 Absence of pain sensation Effect of the CYP2D6*10 C188T polymorphism on postoperative tramadol analgesia i... BeFree 16960721 Detail
0.003 Non-small cell lung carcinoma CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... BeFree 17450472 Detail
0.013 Tardive Dyskinesia We concluded that the CYP2D6*10 C188T polymorphism may be associated with the su... BeFree 15118351 Detail
<0.001 Non-small cell lung carcinoma CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... BeFree 17450472 Detail
0.027 Malignant neoplasm of lung CYP2D6 T188C variant is associated with lung cancer risk in the Chinese populati... BeFree 23558964 Detail
<0.001 Abnormal involuntary movement In the present study, we examined the relationship between the CYP2D6*10 C188T p... BeFree 15118351 Detail
0.002 Non-small cell lung carcinoma CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... BeFree 17450472 Detail
0.008 Carcinoma of lung CYP2D6 T188C variant is associated with lung cancer risk in the Chinese populati... BeFree 23558964 Detail
0.013 lingual-facial-buccal dyskinesia We concluded that the CYP2D6*10 C188T polymorphism may be associated with the su... BeFree 15118351 Detail
<0.001 Non-small cell lung carcinoma CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... BeFree 17450472 Detail
Annotation

Annotations

DescrptionSourceLinks
Effect of the CYP2D6*10 C188T polymorphism on postoperative tramadol analgesia in a Chinese populati... DisGeNET Detail
CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... DisGeNET Detail
We concluded that the CYP2D6*10 C188T polymorphism may be associated with the susceptibility to the ... DisGeNET Detail
CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... DisGeNET Detail
CYP2D6 T188C variant is associated with lung cancer risk in the Chinese population. DisGeNET Detail
In the present study, we examined the relationship between the CYP2D6*10 C188T polymorphism and the ... DisGeNET Detail
CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... DisGeNET Detail
CYP2D6 T188C variant is associated with lung cancer risk in the Chinese population. DisGeNET Detail
We concluded that the CYP2D6*10 C188T polymorphism may be associated with the susceptibility to the ... DisGeNET Detail
CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... 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
rs377591409 dbSNP
Genome
hg19
Position
chr22:42,525,175-42,525,175
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs377591409
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16714
East Asian Chromosome Counts (ExAC)
8264
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.420135527589545E-4
Chromosome Counts in All Race (ExAC)
113292
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.530699431557392E-5
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