Variant #0000075639 (NC_000007.13:g.99277605C>T, NM_000777.3:c.-86G>A (CYP3A5))
Individual ID |
00046861 |
Chromosome |
7 |
Allele |
Parent #1 |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.99277605C>T |
DNA change (hg38) |
g.99679982C>T |
Published as |
-86G>A |
ISCN |
- |
DB-ID |
CYP3A5_000007 See all 2 reported entries |
Variant remarks |
reference haplotype CYP3A5*1B |
Reference |
Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee |
ClinVar ID |
- |
dbSNP ID |
rs28365095 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
No license selected |
Created by |
Laura Martín Montañez |
Date created |
2015-06-02 21:37:25 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|