All transcript variants in gene D2HGDH

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

1 entry on 1 page. Showing entry 1.
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     
+/. 8i_10_ c.(1140+1_1141-1)_(*1_?)del pathogenic r.? p.(0) g.(242690804_242695263)_(242707385_?)del - del ex9-10 - D2HGDH_015027 MLPA, Ex 9 and 10 deletion PubMed: Kranendijk 2010 - - Germline - - - 0 - Gajja Salomons
Legend