Variant #0000011788 (NC_000003.11:g.10382111T>C, NC_000003.11(NM_001683.3):c.2994+66A>G (ATP2B2))
Individual ID |
00000209 |
Chromosome |
3 |
Allele |
Both (homozygous) |
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.10382111T>C |
DNA change (hg38) |
g.10340427T>C |
Published as |
- |
ISCN |
- |
DB-ID |
ATP2B2_000008 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Yu Sun |
Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
Created by |
Ivo F.A.C. Fokkema |
Date created |
2012-09-13 12:10:46 +02:00 (CEST) |
Date last edited |
2020-06-12 12:00:06 +02:00 (CEST) |

Variant on transcripts
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