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 International |
Created by |
Johan den Dunnen |
Date created |
2015-02-03 22:33:52 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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