Variant #0000657269 (NC_000013.10:g.26535736A>G, ATP8A2(NM_016529.4):c.3207A>G)

Chromosome 13
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.26535736A>G
DNA change (hg38) g.25961598A>G
Published as ATP8A2(NM_016529.5):c.3207A>G (p.A1069=)
ISCN -
DB-ID ATP8A2_000038
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2020-07-03 14:35:06 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP8A2 NM_016529.4 -?/. - c.3207A>G r.(?) p.(Ala1069=)