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     
+/. 2i c.293-23A>G pathogenic r.spl ? g.242680425A>G - - - D2HGDH_015015 - PubMed: Struys 2005 - - Germline - - - 0 - Gajja Salomons
-/. - c.293-18A>G benign r.(=) p.(=) g.242680430A>G - D2HGDH(NM_152783.4):c.293-18A>G - D2HGDH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
Legend