Variant #0000046544 (NC_000021.8:g.27369481C>T, NC_000021.8(NM_000484.3):c.1090+194G>A (APP))
Individual ID |
00000209 |
Chromosome |
21 |
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.27369481C>T |
DNA change (hg38) |
g.25997166= |
Published as |
- |
ISCN |
- |
DB-ID |
APP_000002 |
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 |
2016-10-29 18:55:08 +02:00 (CEST) |

Variant on transcripts
Screenings
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