Variant #0000518010 (NC_000003.11:g.133664022C>T, SLCO2A1(NM_005630.2):c.1378G>A)

Chromosome 3
Allele Unknown
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.133664022C>T
DNA change (hg38) g.133945178C>T
Published as SLCO2A1(NM_005630.2):c.1378G>A (p.G460R)
ISCN -
DB-ID SLCO2A1_000039
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLCO2A1 NM_005630.2 ?/. - c.1378G>A r.(?) p.(Gly460Arg)