Variant #0000760640 (NC_000019.9:g.42486143G>T, ATP1A3(NM_152296.4):c.1109C>A)

Individual ID 00359357
Chromosome 19
Allele Unknown
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.42486143G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATP1A3_000012 See all 3 reported entries
Variant remarks -
Reference Journal: Cordani 2021
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Elisa De Grandis
Database submission license No license selected
Created by Elisa De Grandis
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP1A3 NM_152296.4 +/. - c.1109C>A r.(?) p.(Thr370Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360599 DNA SEQ - - ATP1A3 1 Elisa De Grandis