Variant #0000194055 (NC_000003.11:g.133692594G>A, SLCO2A1(NM_005630.2):c.310C>T)

Individual ID 00117581
Chromosome 3
Allele Both (homozygous)
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.133692594G>A
DNA change (hg38) g.133973750G>A
Published as -
ISCN -
DB-ID SLCO2A1_000020
Variant remarks Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference -
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 Ian Carr
Database submission license No license selected
Created by Ian Carr
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLCO2A1 NM_005630.2 +/. 3 c.310C>T r.(?) p.(G104*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118044 DNA SEQ - - SLCO2A1 1 Ian Carr