Variant #0000567489 (NC_000019.9:g.42492088G>A, ATP1A3(NM_152296.4):c.357C>T)

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.42492088G>A
DNA change (hg38) g.41987936G>A
Published as ATP1A3(NM_001256213.1):c.390C>T (p.(Asn130=)), ATP1A3(NM_001256214.1):c.396C>T (p.N132=), ATP1A3(NM_001256214.2):c.396C>T (p.N132=)
ISCN -
DB-ID ATP1A3_000072 See all 4 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) 0.00244 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP1A3 NM_152296.4 -?/. - c.357C>T r.(?) p.(Asn119=)