Variant #0000720860 (NC_000006.11:g.32552137_32552138insA, NM_002124.3:c.118_119insT (HLA-DRB1))
| Chromosome |
6 |
| Allele |
Unknown |
| Affects function (as reported) |
Does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.32552137_32552138insA |
| DNA change (hg38) |
- |
| Published as |
HLA-DRB1(NM_002124.3):c.118_119insT (p.P40Lfs*2) |
| ISCN |
- |
| DB-ID |
HLA-DRB1_000014 See all 2 reported entries |
| Variant remarks |
VKGL data sharing initiative Nederland |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
CLASSIFICATION record |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.18307 View details |
| Owner |
VKGL-NL_Utrecht |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Utrecht |
| Date created |
2021-02-08 18:36:18 +01:00 (CET) |
| Date last edited |
2024-04-19 20:27:30 +02:00 (CEST) |

Variant on transcripts
|