Variant #0000985110 (NC_000012.11:g.66221807_66221810delinsCT, NM_003483.4:c.138_141delinsCT (HMGA2))
| Individual ID |
00449692 |
| Chromosome |
12 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.66221807_66221810delinsCT |
| DNA change (hg38) |
g.65828027_65828030delinsCT |
| Published as |
- |
| ISCN |
- |
| DB-ID |
HMGA2_000032 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Kaori Yamoto |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Kaori Yamoto |
| Date created |
2024-05-01 09:09:23 +02:00 (CEST) |
| Date last edited |
2024-05-03 12:28:22 +02:00 (CEST) |

Variant on transcripts
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