Variant #0000412692 (NC_000014.8:g.50769668G>A, L2HGDH(NM_024884.2):c.208C>T)

Individual ID 00185704
Chromosome 14
Allele Parent #1
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.50769668G>A
DNA change (hg38) g.50302950G>A
Published as -
ISCN -
DB-ID L2HGDH_000029 See all 23 reported entries
Variant remarks -
Reference PubMed: Vilarinho 2005
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 Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Date created 2016-01-05 14:59:57 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
L2HGDH NM_024884.2 +/. 2 c.208C>T r.(?) p.(Arg70*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186670 DNA SEQ - - L2HGDH 2 Gajja Salomons