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
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