Variant #0000843058 (NC_000001.10:g.24151879del, NM_000191.2:c.27del (HMGCL))
Individual ID |
00405448 |
Chromosome |
1 |
Allele |
Paternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.24151879del |
DNA change (hg38) |
g.23825389del |
Published as |
27delG |
ISCN |
- |
DB-ID |
HMGCL_000033 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Pospisilova 2003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2022-03-18 09:17:42 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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