Variant #0000817750 (NC_000019.9:g.42485704G>A, ATP1A3(NM_152296.4):c.1387C>T)

Individual ID 00387726
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.42485704G>A
DNA change (hg38) g.41981552G>A
Published as NM_001256214:c.1426C>T
ISCN -
DB-ID ATP1A3_000134 See all 2 reported entries
Variant remarks -
Reference PubMed: Hu 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00049 View details
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 +?/. - c.1387C>T r.(?) p.(Arg463Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388957 DNA SEQ;SEQ-NG - - ATP1A3 1 Johan den Dunnen