Variant #0000119315 (NC_000022.10:g.42525035C>T, NM_000106.4:c.505G>A (CYP2D6))
Individual ID |
00046445 |
Chromosome |
22 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.42525035C>T |
DNA change (hg38) |
g.42129033C>T |
Published as |
1758G>A(G169R) |
ISCN |
- |
DB-ID |
CYP2D6_000072 See all 5 reported entries |
Variant remarks |
reference haplotype CYP2D6*14B; no activity (Gly169Arg) |
Reference |
Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee |
ClinVar ID |
- |
dbSNP ID |
rs5030865 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00096 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2016-07-01 18:41:56 +02:00 (CEST) |
Date last edited |
2016-12-28 10:31:47 +01:00 (CET) |

Variant on transcripts
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