Variant #0000194063 (NC_000003.11:g.133670159G>A, SLCO2A1(NM_005630.2):c.754C>T)

Individual ID 00117590
Chromosome 3
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.133670159G>A
DNA change (hg38) g.133951315G>A
Published as -
ISCN -
DB-ID SLCO2A1_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Jirko Kühnisch
Database submission license No license selected
Created by Jirko Kühnisch
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLCO2A1 NM_005630.2 +/. 6 c.754C>T r.(?) p.(Arg252*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118053 DNA SEQ - - SLCO2A1 1 Jirko Kühnisch