Variant #0000000338 (NC_000014.8:g.50734520delT, L2HGDH(NM_024884.2):c.1015delA)

Individual ID 00000119
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.50734520delT
Reference -
DB-ID L2HGDH_000001
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Variome.ir
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
L2HGDH NM_024884.2 ./. - c.1015delA r.(?) p.(Arg339Aspfs*13) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000122 DNA SEQ-NG L2HGDH 1 Variome.ir