All transcript variants in gene D2HGDH

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 10 c.1331T>C pathogenic r.(?) p.(Val444Ala) g.242707149T>C - - - D2HGDH_015004 - PubMed: Struys 2004 - - Germline - - - 0 - Gajja Salomons
+/. 10 c.1331T>C pathogenic r.(?) p.(Val444Ala) g.242707149T>C - - - D2HGDH_015004 - PubMed: Struys 2004 - - Germline - - - 0 - Gajja Salomons
+/. 10 c.1331T>C pathogenic r.(?) p.(Val444Ala) g.242707149T>C - - - D2HGDH_015004 - PubMed: Struys 2004 - - Germline - - - 0 - Gajja Salomons
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