Variant #0000412412 (NC_000014.8:g.50778868T>C, L2HGDH(NM_024884.2):c.1A>G)

Individual ID 00185515
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.50778868T>C
DNA change (hg38) g.50312150T>C
Published as p.(Met1?)
ISCN -
DB-ID L2HGDH_000083 See all 4 reported entries
Variant remarks L2HG level 888 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 +?/. 1 c.1A>G r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186481 DNA MLPA;SEQ - - L2HGDH 1 Gajja Salomons