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
|