Variant #0000172340 (NC_000019.9:g.41497129T>C, CYP2B6(NM_000767.4):c.-82T>C)

Individual ID 00106161
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41497129T>C
DNA change (hg38) g.40991224T>C
Published as -
ISCN -
DB-ID CYP2B6_000220
Variant remarks reference allele CYP2B6*22; increased expression
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-02-03 22:33:52 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP2B6 NM_000767.4 +/. _1 c.-82T>C r.= p.= CYP2B6*22



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106631 DNA SEQ - - CYP2B6 4 Johan den Dunnen