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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMGCL NM_000191.2 +/. 1 c.31C>T r.(?) p.(Arg11*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000453241 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing HMGCL 3 Miriam Erandi Reyna-Fabián


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