Variant #0000842979 (NC_000001.10:g.24147023G>A, NM_000191.2:c.121C>T (HMGCL))

Individual ID 00405381
Chromosome 1
Allele Both (homozygous)
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.24147023G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID HMGCL_000023 See all 2 reported entries
Variant remarks no variant 2nd chromosome
Reference PubMed: Mitchell 1998
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-03-17 17:35:58 +01:00 (CET)
Date last edited 2022-03-17 17:52:32 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMGCL NM_000191.2 +/. - c.121C>T r.(?) p.(Arg41*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000406621 DNA SEQ;SSCA - - HMGCL 1 Johan den Dunnen


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