Variant #0000412452 (NC_000014.8:g.50760832_50769736del, L2HGDH(NM_024884.2):c.141-1_540+1del)

Individual ID 00185544
Chromosome 14
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.50760832_50769736del
DNA change (hg38) g.50294114_50303018del
Published as del exon 2-4
ISCN -
DB-ID L2HGDH_000026 See all 3 reported entries
Variant remarks L2HG level 815 umol/mmol creat
Reference PubMed: Steenweg 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
L2HGDH NM_024884.2 +/. 1i_4i c.141-1_540+1del r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186510 DNA SEQ;PCR;MLPA - - L2HGDH 1 Gajja Salomons