Variant #0000574268 (NC_000023.10:g.152821523G>A, ATP2B3(NM_021949.3):c.2075G>A)

Chromosome X
Allele Unknown
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.152821523G>A
DNA change (hg38) g.153556065G>A
Published as ATP2B3(NM_021949.3):c.2075G>A (p.R692Q)
ISCN -
DB-ID ATP2B3_000134
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) 3.0E-5 View details
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     
ATP2B3 NM_021949.3 -?/. - c.2075G>A r.(?) p.(Arg692Gln)