Variant #0000194051 (NC_000003.11:g.133698463C>T, SLCO2A1(NM_005630.2):c.97-1G>A)

Individual ID 00117578
Chromosome 3
Allele Paternal (confirmed)
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.133698463C>T
DNA change (hg38) g.133979619C>T
Published as -
ISCN -
DB-ID SLCO2A1_000004 See all 3 reported entries
Variant remarks -
Reference PubMed: Zhang 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license No license selected
Created by Global Variome, with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLCO2A1 NM_005630.2 +/. 1i c.97-1G>A r.97_234del p.Val33_Glu78del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118041 DNA SEQ - - SLCO2A1 2 Johan den Dunnen