chr19:41512841:G>T Detail (hg19) (CYP2B6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:41,512,841-41,512,841 |
| hg38 | chr19:41,006,936-41,006,936 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000767.4:c.516G>T | NP_000758.1:p.Gln172His |
| Ensemble | ENST00000324071.10:c.516G>T | ENST00000324071.10:p.Gln172His |
| ENST00000593831.1:c.256+2490G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.175 |
| ToMMo:0.174 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.188 |
Prediction
ClinVar
| Clinical Significance |
drug response
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
drug response
|
2015-05-18 | no assertion criteria provided |
germline
|
Detail | |
|
drug response
|
2021-03-24 | reviewed by expert panel |
germline
|
Detail | |
|
drug response
|
2021-03-24 | reviewed by expert panel |
germline
|
Detail | |
|
drug response
|
2021-03-24 | reviewed by expert panel |
germline
|
Detail | |
Likely benign
|
2021-07-22 | criteria provided, single submitter | CYP2B6-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.083 | HIV Infections | Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected So... | BeFree | 22297601 | Detail |
| 0.086 | HIV Infections | Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected So... | BeFree | 22297601 | Detail |
| <0.001 | HIV Infections | In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2... | BeFree | 24831655 | Detail |
| <0.001 | Toxic Epidermal Necrolysis | CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be a... | BeFree | 23774940 | Detail |
| <0.001 | Stevens-Johnson syndrome | CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be a... | BeFree | 23774940 | Detail |
| <0.001 | Nonorganic psychosis | We report (to our knowledge, for the first time in a child) the emergence of psy... | BeFree | 17968817 | Detail |
| <0.001 | Neurologic Symptoms | The CYP2B6 G516T genotype was also associated with central nervous system sympto... | BeFree | 15622315 | Detail |
| <0.001 | Psychotic Disorders | We report (to our knowledge, for the first time in a child) the emergence of psy... | BeFree | 17968817 | Detail |
| 0.086 | HIV Infections | CYP2B6 G516T genotyping in a UK cohort of HIV-positive patients: polymorphism fr... | BeFree | 19486190 | Detail |
| 0.086 | HIV Infections | Seventy-two adult Chinese HIV-positive treatment-naïve patients were recruited i... | BeFree | 23970651 | Detail |
| 0.003 | Hematologic Neoplasms | This study demonstrates for the first time that the presence of the CYP2B6 G516T... | BeFree | 16183265 | Detail |
| 0.086 | HIV Infections | CYP2B6 516G>T (rs3745274) and smoking status are associated with efavirenz pl... | BeFree | 24831655 | Detail |
| 0.086 | HIV Infections | Efavirenz pharmacokinetics in HIV-1-infected children are associated with CYP2B6... | BeFree | 17356468 | Detail |
| 0.086 | HIV Infections | HIV-infected patients with or without TB who had received combination antiretrov... | BeFree | 24551111 | Detail |
| 0.086 | HIV Infections | Cytochrome P450 2B6 (CYP2B6) G516T influences nevirapine plasma concentrations i... | BeFree | 17352764 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) AND Efavirenz response | ClinVar | Detail |
| NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) AND efavirenz response - Metabolism/PK | ClinVar | Detail |
| NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) AND efavirenz response - Toxicity | ClinVar | Detail |
| NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) AND nevirapine response - Metabolism/PK | ClinVar | Detail |
| NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) AND CYP2B6-related disorder | ClinVar | Detail |
| Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected South African patients... | DisGeNET | Detail |
| Prevalence of MDR1 C3435T and CYP2B6 G516T polymorphisms among HIV-1 infected South African patients... | DisGeNET | Detail |
| In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2B6 c.485-18C>T (r... | DisGeNET | Detail |
| CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be associated with SJS/T... | DisGeNET | Detail |
| CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be associated with SJS/T... | DisGeNET | Detail |
| We report (to our knowledge, for the first time in a child) the emergence of psychosis in a 12-year ... | DisGeNET | Detail |
| The CYP2B6 G516T genotype was also associated with central nervous system symptoms at week 1 (P = 0.... | DisGeNET | Detail |
| We report (to our knowledge, for the first time in a child) the emergence of psychosis in a 12-year ... | DisGeNET | Detail |
| CYP2B6 G516T genotyping in a UK cohort of HIV-positive patients: polymorphism frequency and influenc... | DisGeNET | Detail |
| Seventy-two adult Chinese HIV-positive treatment-naïve patients were recruited in a study to evaluat... | DisGeNET | Detail |
| This study demonstrates for the first time that the presence of the CYP2B6 G516T mutation increases ... | DisGeNET | Detail |
| CYP2B6 516G>T (rs3745274) and smoking status are associated with efavirenz plasma concentration i... | DisGeNET | Detail |
| Efavirenz pharmacokinetics in HIV-1-infected children are associated with CYP2B6-G516T polymorphism. | DisGeNET | Detail |
| HIV-infected patients with or without TB who had received combination antiretroviral therapy contain... | DisGeNET | Detail |
| Cytochrome P450 2B6 (CYP2B6) G516T influences nevirapine plasma concentrations in HIV-infected patie... | 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
- rs3745274 dbSNP
- Genome
- hg19
- Position
- chr19:41,512,841-41,512,841
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 154.46
- Standard deviation of sample read depth (HGVD)
- 68.26
- Number of reference allele (HGVD)
- 1992
- Number of alternative allele (HGVD)
- 424
- Allele Frequency (HGVD)
- 0.17549668874172186
- Gene Symbol (HGVD)
- CYP2B6
- 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))
- rs3745274
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.174
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2917
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8608
- East Asian Allele Counts (ExAC)
- 1616
- East Asian Heterozygous Counts (ExAC)
- 1322
- East Asian Homozygous Counts (ExAC)
- 147
- East Asian Allele Frequency (ExAC)
- 0.18773234200743494
- Chromosome Counts in All Race (ExAC)
- 121044
- Allele Counts in All Race (ExAC)
- 33068
- Heterozygous Counts in All Race (ExAC)
- 23358
- Homozygous Counts in All Race (ExAC)
- 4855
- Allele Frequency in All Race (ExAC)
- 0.2731899144112885
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