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
Screenings
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