Variant #0000259547 (NC_000019.9:g.42485987G>C, ATP1A3(NM_152296.4):c.1193-4C>G)

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.42485987G>C
DNA change (hg38) g.41981835G>C
Published as ATP1A3(NM_001256214.1):c.1232-4C>G, ATP1A3(NM_001256214.2):c.1232-4C>G
ISCN -
DB-ID ATP1A3_000067 See all 3 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) 0.00024 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP1A3 NM_152296.4 -?/. - c.1193-4C>G r.spl? p.?