Variant #0000412224 (NC_000014.8:g.50769712C>T, L2HGDH(NM_024884.2):c.164G>A)

Individual ID 00185394
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.50769712C>T
DNA change (hg38) g.50302994C>T
Published as -
ISCN -
DB-ID L2HGDH_000027 See all 18 reported entries
Variant remarks -
Reference PubMed: Topcu 2004, OMIM:var0004
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 2016-01-05 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.164G>A r.(?) p.(Gly55Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186360 DNA SEQ - - L2HGDH 1 Gajja Salomons