Variant #0000462509 (NC_000003.11:g.49568995A>G, DAG1(NM_001165928.3):c.1051A>G)
Individual ID |
00221215 |
Chromosome |
3 |
Allele |
Parent #1 |
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.49568995A>G |
DNA change (hg38) |
g.49531562A>G |
Published as |
- |
ISCN |
- |
DB-ID |
DAG1_000062 See all 2 reported entries |
Variant remarks |
no second variant |
Reference |
PubMed: Nallamilli 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
Madhuri Hegde |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2019-02-06 14:15:12 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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