Full data view for gene DMGDH

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.1097A>G r.(?) p.(Asn366Ser) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 48 Mohammed Faruq
-/. - c.1097A>G r.(?) p.(Asn366Ser) Both (homozygous) - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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