Variant #0000412770 (NC_000014.8:g.50760832_50769736del, L2HGDH(NM_024884.2):c.141-1_540+1del)

Individual ID 00185758
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 -
Reference PubMed: Steenweg 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Date created 2016-05-06 16:17:03 +02:00 (CEST)
Date last edited 2020-07-05 14:46:32 +02:00 (CEST)
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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     
0000186724 DNA SEQ;PCR;MLPA - - L2HGDH 1 Gajja Salomons