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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMGCL NM_000191.2 +?/. 2 c.112G>T r.(?) p.(Val38Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000453056 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing HMGCL 1 Miriam Erandi Reyna-Fabián


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