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Curation:

Currentness:

CYP2A6 L160H

(CYP2A6 Leu160His)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

T @ chr19:41354533: 1.7% (185/10754) in EVS
T @ chr19:46046372: 1.6% (2/124) in GET-Evidence
Frequency shown in summary reports: 1.7% (185/10754)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs1801272
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

OMIM

Coumarin, poor metabolism of
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720
Nicotine, poor metabolism of, included
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720
Cyp2a6, v1
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720
Cypa6*2
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720

PharmGKB

This variant results in enzyme inactivity and is considered to be part of the "slow metabolizer" group; part of the CYP2A6*2 haplotype.
www.pharmgkb.org/search/annotatedGene/cyp2a6

PolyPhen-2

Score: 0.045 (benign)

Web search results (127 hits -- see all)

Repository samples with pharmacogenetic variants verified by ...
LEU160HIS. NP_000753.2. CYP2A6*2. A/T. 4. NA10847. DNA. CYP2A6. rs1801272 ... CYP2A6*2. T/T. 5. NA10857. DNA. CYP2A6. rs1801272. 50707A>T. NG_000008.6. LEU160HIS ...
ccr.coriell.org/Excel/NIGMS/PharmVerifiedVariants.xls
Rs1801272 - SNPedia
23andMe. rs1801272. SNP Nexus. Gene. CYP2A6. Chromosome. 19. Orientation. minus ... part of the "slow metabolizer" group; part of the CYP2A6*2 haplotype. ...
www.snpedia.com/index.php?title=Rs1801272&oldid=294950
CYP2A6 Gene - GeneCards | CP2A6 Protein | CP2A6 Antibody
EntrezGene summary for CYP2A6: This gene, CYP2A6, encodes a member of ... CYP2A6 Gene in genomic location: bands according to Ensembl, locations according ...
www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2A6
PLoS ONE: Phase I Metabolic Genes and Risk of Lung Cancer ...
PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... We genotyped CYP2A6 rs1801272 (also known as CYP2A6*2) because this SNP is relatively ...
plosone.org/article/info:doi/10.1371/journal.pone.0005652
CYP2A6
To be considered CYP2A6*1A, the genomic reference sequence must be changed to ... CYP2A6*1B4. CYP2A6.1. gene conversion in 3' flanking region. gene ...
www.cypalleles.ki.se/cyp2a6.htm
CYP2A6 [PharmGKB]
CYP2A6 is a highly polymorphic gene. Currently, there are 23 numbered (e.g. CYP2A6*2) ... rs1801272 at chr19:46046373 in CYP2A6. This variant results in enzyme inactivity and is ...
www.pharmgkb.org/do/serve?objId=PA121&objCls=Gene
Pharma DMET - SNPedia
... snp rs4986891 CYP2A6 CYP2A6_1799T>A(L160H) CYP2A6*2_1799T>A(L160H) core snp rs1801272 CYP2A6 CYP2A6_1874>(rs28399442) CYP2A6_1874G>T(rs28399442) ...
www.snpedia.com/index.php/Pharma_DMET
Nicotine metabolism and CYP2A6 allele frequencies in Koreans
and frequencies of CYP2A6 alleles, we studied nicotine metabolism and the CYP2A6 ... L160H. G479V. Fig. 1. Schematic structures of human CYP2A6 alleles. ...
www.p.kanazawa-u.ac.jp/~taisha/Pharmacogenetics2001_317.pdf
Gendia | Pharmacogenetic Tests
Tests determining the toxicity of chemotherapeutics such as 5-Fluorouracil, ... Such toxicity is caused by mutations in the genes encoding Dihydropyrimidine ...
www.gendia.net/tests_tab17.html

Other in silico analyses

NBLOSUM100 score = 6
GET-Evidence autoscore = 2

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
May 8 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Jan 5 2010 OMIM Importing Robot edited variant summary view
Jan 5 2010 OMIM Importing Robot added variant view

CYP2A6 L160H - GET-Evidence