Genomic variant #0000172712

Individual ID 00000012
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41496461T>C
DNA change (hg38) g.40990556T>C
Published as -750T>C
ISCN -
DB-ID CYP2B6_000011 See all 12 reported entries
Variant remarks reference allele CYP2B6*6B
Reference -
ClinVar ID -
dbSNP ID rs4802101
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
CYP2B6 NM_000767.4 -?/. _1 c.-750T>C - r.= p.= CYP2B6*6B



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000012 DNA NGS - - ACADVL, ADA, AGL, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2 20 LOVD-team, but with Curator vacancy