Genomic variant #0000406032

Individual ID 00181203
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.152818590G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATP2B3_000127 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00028 View details
Owner Karine Poirier
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP2B3 NM_021949.3 ?/. - c.1921G>A VUS r.(?) p.(Asp641Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182161 DNA SEQ-NG blood - ATP2B3, GPR112, NNAT, USP9X 4 Karine Poirier