Variant #0000989627 (NC_000002.11:g.25964906C>T, NM_018263.4:c.4300G>A (ASXL2))
Individual ID |
00453054 |
Chromosome |
2 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.25964906C>T |
DNA change (hg38) |
NC_000002.12:g.25742037C>T |
Published as |
ASXL2 4300G>A |
ISCN |
- |
DB-ID |
ASXL2_000044 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Rots 2024, Journal: Rots 2024 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2024-08-15 20:01:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|