Variant #0000987565 (NC_000001.10:g.24147032C>A, NM_000191.2:c.112G>T (HMGCL))
Individual ID |
00451457 |
Chromosome |
1 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic (!) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.24147032C>A |
DNA change (hg38) |
g.23820542C>A |
Published as |
- |
ISCN |
- |
DB-ID |
HMGCL_000071 |
Variant remarks |
ClinVar reports another patient with Deficiency of hydroxymethylglutaryl-CoA lyase who presents the same variant. Molecular analysis in parents could not be performed (father died). Acoording to Uniprot (P35914) this variant is located at the Pyruvate carboxyltransferase domain (33-300aa). This domain is found in pyruvate binding enzymes and acetyl-CoA dependent enzymes, suggesting that this domain can be associated with different enzymatic activities. |
Reference |
- |
ClinVar ID |
ClinVar-2075645 |
dbSNP ID |
- |
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 |
2024-06-06 20:46:59 +02:00 (CEST) |
Date last edited |
2024-06-24 17:00:41 +02:00 (CEST) |

Variant on transcripts
Screenings
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