Variant #0000066591 (NC_000010.10:g.96818199C>G, NM_000770.3:c.712G>C (CYP2C8))

Individual ID 00038600
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.96818199C>G
DNA change (hg38) g.95058442C>G
Published as -
ISCN -
DB-ID CYP2C8_000014 See all 3 reported entries
Variant remarks cDNA yeast expression cloning shows reduced expression, decreased affinity toward paclitaxel
Reference PubMed: Hanioka 2010
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00019 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2013-05-13 16:45:03 +02:00 (CEST)
Date last edited 2020-07-14 21:50:58 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP2C8 NM_000770.3 +/. 5 c.712G>C r.(?) p.Ala238Pro CYP2C8*14



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038832 DNA SEQ - - CYP2C8 1 Johan den Dunnen


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