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 International |
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) |

Variant on transcripts
Screenings
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