Variant #0000080825 (NC_000010.10:g.96696875C>T, NM_000771.3:c.-1565C>T (CYP2C9))
Individual ID |
00051700 |
Chromosome |
10 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.96696875C>T |
DNA change (hg38) |
g.94937118C>T |
Published as |
-1566C>T |
ISCN |
- |
DB-ID |
CYP2C9_001021 See all 5 reported entries |
Variant remarks |
- |
Reference |
PubMed: Zhao 2004 |
ClinVar ID |
- |
dbSNP ID |
rs9332096 |
Origin |
Unknown |
Segregation |
- |
Frequency |
1/26 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
No license selected |
Created by |
Annemarie Schop (student) |
Date created |
2013-03-10 14:38:37 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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