chr19:41012316:T>C Detail (hg38) (CYP2B6)

Information

Genome

Assembly Position
hg19 chr19:41,518,221-41,518,221 View the variant detail on this assembly version.
hg38 chr19:41,012,316-41,012,316

HGVS

Type Transcript Protein
RefSeq NM_000767.4:c.983T>C NP_000758.1:p.Ile328Thr
Ensemble ENST00000324071.10:c.983T>C ENST00000324071.10:p.Ile328Thr
ENST00000593831.1:c.275T>C ENST00000593831.1:p.Ile92Thr
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 123930 OMIM
HGNC 2615 HGNC
Ensembl ENSG00000197408 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv405679377 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2021-03-24 reviewed by expert panel germline Detail
Benign 2019-05-02 criteria provided, single submitter CYP2B6-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<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
Annotation

Annotations

DescrptionSourceLinks
NM_000767.5(CYP2B6):c.983T>C (p.Ile328Thr) AND nevirapine response - Toxicity ClinVar Detail
NM_000767.5(CYP2B6):c.983T>C (p.Ile328Thr) AND CYP2B6-related disorder ClinVar 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

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
rs28399499 dbSNP
Genome
hg38
Position
chr19:41,012,316-41,012,316
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8624
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)
120960
Allele Counts in All Race (ExAC)
783
Heterozygous Counts in All Race (ExAC)
703
Homozygous Counts in All Race (ExAC)
40
Allele Frequency in All Race (ExAC)
0.006473214285714286
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