All transcript variants in gene D2HGDH

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
-/. - c.685-9T>C benign r.(=) p.(=) g.242684115T>C - D2HGDH:c.685-9T>C - D2HGDH_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 5i c.685-2A>G pathogenic r.spl p.? g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - Gajja Salomons
+/. 5i c.685-2A>G pathogenic r.spl p.? g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - Gajja Salomons
+/. 5i c.685-2A>G pathogenic r.spl p.? g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - Gajja Salomons
+/. 5i c.685-2A>G pathogenic r.spl p.? g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - Gajja Salomons
+/. 5i c.685-2A>G pathogenic r.spl p.? g.242684122A>G - IVS5-2A>G - D2HGDH_015003 - PubMed: Struys 2005 - - Germline - - - 0 - Gajja Salomons
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