Full data view for gene DPM3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
Information The variants shown are described using the NM_153741.1 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1 c.-143C>A - r.(=) p.(=) Unknown g.155113104G>T - - - DPM3_000003 - - - rs4971073 Germline - 0.14-0.92 - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-113T>G - r.(=) p.(=) Unknown g.155113074A>C - - - DPM3_000002 - - - rs12745576 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _2_ c.(?_-1)_(*1_?)del - r.0? p.0? Maternal (inferred) g.(?_155112437)_(155112717_?)del - 1_279del - DPM3_000004 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - CDG-1O - - - M - - - - 0 - - 1 Juliette Svahn
+?/. 2 c.41T>C - r.(?) p.(Leu14Pro) Paternal (confirmed) g.155112676A>G - - - DPM3_000005 - - - - Germline - - - 0 - DNA SEQ-NG - - CDG-1O - - - M - - - - 0 - - 1 Juliette Svahn
+/. 2 c.254T>C - r.(?) p.(Leu85Ser) Both (homozygous) g.155112463A>G - - - DPM3_000001 not in 240 control chromosomes PubMed: Lefeber 2009, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CDG-1O - PubMed: Lefeber 2009 - F no Greece - - 0 - - 1 Johan den Dunnen
+/. 2 c.254T>C - - p.Leu85Ser Unknown g.155112463A>G - - - DPM3_000001 expression cloning CHO-cells no DPM3 enzyme activity, reduced DPM1 binding capacity PubMed: Lefeber 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.254T>C pathogenic r.(?) p.(Leu85Ser) Unknown g.155112463A>G - - - DPM3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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