Variant #0000853596 (NC_000013.10:g.26144957C>T, ATP8A2(NM_016529.4):c.1526C>T)

Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.26144957C>T
DNA change (hg38) -
Published as ATP8A2(NM_016529.5):c.1526C>T (p.T509M)
ISCN -
DB-ID ATP8A2_000054
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 15:40:45 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP8A2 NM_016529.4 ?/. - c.1526C>T r.(?) p.(Thr509Met)