Variant #0000624014 (NC_000019.9:g.42485768C>T, ATP1A3(NM_152296.4):c.1323G>A)

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42485768C>T
DNA change (hg38) g.41981616C>T
Published as ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=)
ISCN -
DB-ID ATP1A3_000065 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00721 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP1A3 NM_152296.4 -?/. - c.1323G>A r.(?) p.(Ala441=)