Full data view for gene DMGDH

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

11 entries on 1 page. Showing entries 1 - 11.
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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.372T>G r.(?) p.(Gly124=) Unknown - benign g.78351636A>C g.79055813A>C DMGDH(NM_013391.3):c.372T>G (p.G124=) - DMGDH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.835T>C r.(?) p.(Ser279Pro) Unknown - benign g.78340286A>G g.79044463A>G DMGDH(NM_013391.3):c.835T>C (p.S279P) - DMGDH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.857G>A r.(?) p.(Arg286Gln) Unknown - likely benign g.78340264C>T g.79044441C>T DMGDH(NM_013391.2):c.857G>A (p.(Arg286Gln)) - DMGDH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.864G>C r.(?) p.(Leu288=) Unknown - benign g.78340257C>G g.79044434C>G DMGDH(NM_013391.3):c.864G>C (p.L288=) - DMGDH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.898C>T r.(?) p.(Leu300Phe) Unknown - likely benign g.78340223G>A - DMGDH(NM_013391.3):c.898C>T (p.L300F) - DMGDH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.972G>A r.(?) p.(Trp324*) Unknown - VUS g.78340149C>T - DMGDH(NM_013391.3):c.972G>A (p.W324*) - DMGDH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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
?/. - c.1471G>C r.(?) p.(Glu491Gln) Unknown - VUS g.78328556C>G - DMGDH(NM_013391.3):c.1471G>C (p.E491Q) - DMGDH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2065G>T r.(?) p.(Glu689Ter) Unknown - VUS g.78322372C>A - DMGDH(NM_013391.3):c.2065G>T (p.E689*) - DMGDH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2309G>A r.(?) p.(Arg770Gln) Parent #1 - likely benign g.78301172C>T g.79005349C>T - - DMGDH_000006 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41272262 Germline - 6/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
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