Variant #0000989554 (NC_000007.13:g.151878530G>A, NM_170606.2:c.6415C>T (MLL3))
| Individual ID |
00453054 |
| Chromosome |
7 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.151878530G>A |
| DNA change (hg38) |
g.152181445G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
MLL3_000259 See all 2 reported entries |
| Variant remarks |
ACMG PVS1, PM2_sup |
| 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 19:46:57 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
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