Variant #0000462544 (NC_000003.11:g.49569159G>A, DAG1(NM_001165928.3):c.1215G>A)
Individual ID |
00222660 |
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.49569159G>A |
DNA change (hg38) |
g.49531726G>A |
Published as |
- |
ISCN |
- |
DB-ID |
DAG1_000066 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Nallamilli 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00013 View details |
Owner |
Madhuri Hegde |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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