Variant #0000172321 (NC_000019.9:g.41494891T>C, CYP2B6(NM_000767.4):c.-2320T>C)

Individual ID 00106153
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41494891T>C
DNA change (hg38) g.40988986T>C
Published as -2320T>C
ISCN -
DB-ID CYP2B6_000001 See all 6 reported entries
Variant remarks reference allele CYP2B6*1J
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP2B6 NM_000767.4 -?/. _1 c.-2320T>C r.= p.= CYP2B6*1J



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106623 DNA SEQ - - CYP2B6 4 Johan den Dunnen