chr19:41354533:A>T Detail (hg19) (CYP2A6)

Information

Genome

Assembly Position
hg19 chr19:41,354,533-41,354,533
hg38 chr19:40,848,628-40,848,628 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000762.5:c.479T>A NP_000753.3:p.Leu160His
Ensemble ENST00000301141.10:c.479T>A ENST00000301141.10:p.Leu160His
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 drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 122720 OMIM
HGNC 2610 HGNC
Ensembl ENSG00000255974 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
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2000-09-01 no assertion criteria provided germline Detail
drug response 2000-09-01 no assertion criteria provided Nicotine, poor metabolism of germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.133 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
<0.001 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.020 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.003 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.002 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.001 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
<0.001 pancreatic carcinoma Analysis of 22 selected SNPs in oxidative stress and DNA damage genes revealed t... BeFree 24651674 Detail
<0.001 Malignant neoplasm of pancreas Analysis of 22 selected SNPs in oxidative stress and DNA damage genes revealed t... BeFree 24651674 Detail
0.003 Malignant neoplasm of pancreas Analysis of 22 selected SNPs in oxidative stress and DNA damage genes revealed t... BeFree 24651674 Detail
<0.001 pancreatic carcinoma Analysis of 22 selected SNPs in oxidative stress and DNA damage genes revealed t... BeFree 24651674 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000762.5(CYP2A6):c.479T>A (p.Leu160His) AND Warfarin response ClinVar Detail
NM_000762.5(CYP2A6):c.479T>A (p.Leu160His) AND Nicotine, poor metabolism of ClinVar Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
Analysis of 22 selected SNPs in oxidative stress and DNA damage genes revealed that CYP2A6 L160H was... DisGeNET Detail
Analysis of 22 selected SNPs in oxidative stress and DNA damage genes revealed that CYP2A6 L160H was... DisGeNET Detail
Analysis of 22 selected SNPs in oxidative stress and DNA damage genes revealed that CYP2A6 L160H was... DisGeNET Detail
Analysis of 22 selected SNPs in oxidative stress and DNA damage genes revealed that CYP2A6 L160H was... 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
rs1801272 dbSNP
Genome
hg19
Position
chr19:41,354,533-41,354,533
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8420
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118526
Allele Counts in All Race (ExAC)
2203
Heterozygous Counts in All Race (ExAC)
2115
Homozygous Counts in All Race (ExAC)
44
Allele Frequency in All Race (ExAC)
0.01858663921839934
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