Variant #0000081271 (NC_000010.10:g.96696529T>C, NM_000771.3:c.-1911T>C (CYP2C9))

Individual ID 00051613
Chromosome 10
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.96696529T>C
DNA change (hg38) g.94936772T>C
Published as -
ISCN -
DB-ID CYP2C9_001007 See all 10 reported entries
Variant remarks reference haplotype CYP2C9*3A (predicted haplotype)
Reference Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-03-10 14:08:11 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP2C9 NM_000771.3 +/. _1 c.-1911T>C - p.= CYP2C9*3A



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051561 DNA SEQ - - CYP2C9 5 Johan den Dunnen


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