Variant #0000480191 (NC_000013.10:g.26133134G>T, ATP8A2(NM_016529.4):c.1287G>T)

Individual ID 00235366
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.26133134G>T
DNA change (hg38) g.25558996G>T
Published as -
ISCN -
DB-ID ATP8A2_000019 See all 2 reported entries
Variant remarks -
Reference PubMed: Martín-Hernández 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-05-24 10:29:46 +02:00 (CEST)
Date last edited 2019-05-24 10:35:45 +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.1287G>T r.(?) p.(Lys429Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000236469 DNA SEQ;SEQ-NG - WES ATP8A2 1 Johan den Dunnen