Variant #0000010146 (NC_000023.10:g.152807923G>C, ATP2B3(NM_021949.3):c.790+17G>C)

Individual ID 00000209
Chromosome X
Allele Maternal (inferred)
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.152807923G>C
DNA change (hg38) g.153542465G>C
Published as -
ISCN -
DB-ID ATP2B3_000003 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.99771 View details
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP2B3 NM_021949.3 ?/. - c.790+17G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000210 DNA SEQ-NG-I - - - 6404 Yu Sun