Variant #0000263253 (NC_000019.9:g.42492238T>A, ATP1A3(NM_152296.4):c.207A>T)

Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42492238T>A
DNA change (hg38) g.41988086T>A
Published as ATP1A3(NM_001256214.1):c.246A>T (p.A82=), ATP1A3(NM_001256214.2):c.246A>T (p.A82=)
ISCN -
DB-ID ATP1A3_000074 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00118 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP1A3 NM_152296.4 -/. - c.207A>T r.(?) p.(Ala69=)