All variants in the DMGDH gene

Information The variants shown are described using the NM_013391.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.1097A>G r.(?) p.(Asn366Ser) - benign g.78338202T>C g.79042379T>C - - DMGDH_000007 48 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77116243 Germline - 48/2790 individuals - 0 - Mohammed Faruq
-/. - c.1097A>G r.(?) p.(Asn366Ser) - benign g.78338202T>C g.79042379T>C - - DMGDH_000007 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77116243 Germline - 1/2790 individuals - 0 - Mohammed Faruq
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