Variant #0000290611 (NC_000014.8:g.50769668G>A, L2HGDH(NM_024884.2):c.208C>T)

Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.50769668G>A
DNA change (hg38) g.50302950G>A
Published as L2HGDH(NM_024884.2):c.208C>T (p.R70*), L2HGDH(NM_024884.3):c.208C>T (p.R70*)
ISCN -
DB-ID L2HGDH_000029 See all 23 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
L2HGDH NM_024884.2 +/. - c.208C>T r.(?) p.(Arg70Ter)