Variant #0000367766 (NC_000019.9:g.42489234C>T, ATP1A3(NM_152296.4):c.829G>A)

Individual ID 00163659
Chromosome 19
Allele Parent #1
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.42489234C>T
DNA change (hg38) g.41985082C>T
Published as -
ISCN -
DB-ID ATP1A3_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Tarsy 2010, OMIM:var0003
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP1A3 NM_152296.4 +/. 8 c.829G>A r.(?) p.(Glu277Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164524 DNA SEQ - - ATP1A3 1 Johan den Dunnen