Variant #0000987784 (NC_000001.10:g.24151875G>A, NM_000191.2:c.31C>T (HMGCL))
| Individual ID |
00451639 |
| Chromosome |
1 |
| Allele |
Parent #2 |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.24151875G>A |
| DNA change (hg38) |
g.23825385G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
HMGCL_000050 See all 5 reported entries |
| Variant remarks |
Grünert 2017:28583327, Aoyama 2015:25872961, Puisac 2013:23465862 |
| Reference |
- |
| ClinVar ID |
ClinVar-521752 |
| dbSNP ID |
rs1212444447 |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Miriam Erandi Reyna-Fabián |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Miriam Erandi Reyna-Fabián |
| Date created |
2024-06-18 03:20:28 +02:00 (CEST) |
| Date last edited |
2024-06-18 16:06:12 +02:00 (CEST) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|