Genomic variant #0000347203

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.242707349del
DNA change (hg38) -
Published as D2HGDH:NM_152783.3:c.1531del (Leu511fs)
ISCN -
DB-ID D2HGDH_000008
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
D2HGDH NM_152783.3 +?/. - c.1531del likely pathogenic r.(?) p.(Leu511Serfs*169)