Variant #0000080866 (NC_000010.10:g.96697252C>T, NM_000771.3:c.-1188C>T (CYP2C9))

Individual ID 00051658
Chromosome 10
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.96697252C>T
DNA change (hg38) g.94937495C>T
Published as -
ISCN -
DB-ID CYP2C9_001002 See all 28 reported entries
Variant remarks Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
Reference PubMed: King 2004
ClinVar ID -
dbSNP ID rs4918758
Origin Germline
Segregation -
Frequency 1/306 chromosomes
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.-1188C>T r.(=) p.(=) CYP2C9*11B



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051606 DNA PCRdig;SSCA;SEQ - - CYP2C9 3 Johan den Dunnen


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