Variant #0000685825 (NC_000019.9:g.42492665C>T, ATP1A3(NM_152296.4):c.56G>A)

Individual ID 00309663
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.42492665C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATP1A3_000131
Variant remarks ACMG grading: BP4,PM2
2y old male
Reference -
ClinVar ID -
dbSNP ID rs782596240
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP1A3 NM_152296.4 ?/. - c.56G>A r.(?) p.(Arg19His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000310808 DNA SEQ-NG-S - - - 3 Andreas Laner