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 International |
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) |

Variant on transcripts
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