All transcript variants in gene D2HGDH

Information The variants shown are described using the NM_152783.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 5 c.566C>T pathogenic r.(?) p.(Pro189Leu) g.242683112C>T - 566C>T - D2HGDH_015033 - PubMed: Kranendijk 2010 - - Germline - - - 0 - Gajja Salomons
+/. 5 c.566C>T pathogenic r.(?) p.(Pro189Leu) g.242683112C>T - 566C>T - D2HGDH_015033 - PubMed: Kranendijk 2010 - - Germline - - - 0 - Gajja Salomons
Legend