Variant #0000412684 (NC_000014.8:g.50778845del, L2HGDH(NM_024884.2):c.25del)

Individual ID 00185698
Chromosome 14
Allele Parent #2
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.50778845del
DNA change (hg38) g.50312127del
Published as 25delG
ISCN -
DB-ID L2HGDH_000102 See all 3 reported entries
Variant remarks -
Reference -
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
L2HGDH NM_024884.2 +?/. 1 c.25del r.(?) p.(Val9Leufs*43)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186664 DNA SEQ - - L2HGDH 2 Gajja Salomons