Variant #0000066619 (NC_000010.10:g.96798776A>G, NM_000770.3:c.1169T>C (CYP2C8))

Individual ID 00038607
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.96798776A>G
DNA change (hg38) g.95039019A>G
Published as T1169C
ISCN -
DB-ID CYP2C8_001010
Variant remarks -
Reference PubMed: Bahadur 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/232 chromosomes
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-05-18 10:41:18 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP2C8 NM_000770.3 ?/. 8 c.1169T>C r.(?) p.(Leu390Ser) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038839 DNA SEQ;SSCA - - CYP2C8 1 Johan den Dunnen


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