Unique variants in the DPM1 gene

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_003859.1 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

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     
-?/. 1 - c.-1625G>T r.(?) p.(=) - likely benign g.49576685C>A - MOCS3(NM_014484.4):c.1306C>A (p.P436T) - DPM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-1302T>C r.(?) p.(=) - likely benign g.49576362A>G g.50959825A>G MOCS3(NM_014484.4):c.983A>G (p.(Gln328Arg)) - DPM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-1266C>T r.(?) p.(=) - VUS g.49576326G>A - MOCS3(NM_014484.4):c.947G>A (p.C316Y) - MOCS3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-1114C>G r.(?) p.(=) - likely benign g.49576174G>C - MOCS3(NM_014484.4):c.795G>C (p.A265=) - DPM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-1088C>T r.(?) p.(=) - pathogenic g.49576148G>A g.50959611G>A MOCS3(NM_014484.4):c.769G>A (p.A257T) - MOCS3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.28C>A r.(?) p.(Pro10Thr) - likely benign g.49575033G>T - DPM1(NM_001317034.1):c.28C>A (p.P10T) - DPM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.182del r.(?) p.(Ile61LysfsTer3) - likely pathogenic g.49571802del g.50955265del DPM1(NM_003859.1):c.182delT (p.(Ile61LysfsTer3)) - DPM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 - c.274C>G r.(?) p.(Arg92Gly) - pathogenic g.49565187G>C g.50948650G>C - - DPM1_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Papuc 2019 - rs121908583 Germline - 1/2794 individuals - - - Anaïs Begemann, Mohammed Faruq
-?/. 1 - c.398+13T>C r.(=) p.(=) - likely benign g.49562261A>G - DPM1(NM_001317034.1):c.398+13T>C - DPM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.525G>T r.(?) p.(Leu175Phe) - VUS g.49557440C>A g.50940903C>A - - DPM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.564-105T>C r.(=) p.(=) - VUS g.49552904A>G g.50936367A>G - - DPM1_000001 - PubMed: Almomani 2011 {dbSNP:2294902} - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.630G>T r.(?) p.(Gln210His) - likely benign g.49552733C>A g.50936196C>A DPM1(NM_003859.1):c.630G>T (p.(Gln210His)) - DPM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.675C>T r.(?) p.(Gly225=) - VUS g.49552688G>A g.50936151G>A DPM1(NM_001317034.1):c.780C>T (p.G260=) - DPM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.679-8dup r.(=) p.(=) - benign, likely benign g.49551792dup g.50935255dup DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)) - DPM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/. 2 - c.679-7A>T r.(=) p.(=) - benign, likely benign g.49551780T>A g.50935243T>A DPM1(NM_003859.1):c.679-7A>T (p.(=)), DPM1(NM_003859.2):c.679-7A>T - DPM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/. 2 - c.679-7_679-6insT r.(=) p.(=) - benign, likely benign g.49551779_49551780insA g.50935242_50935243insA DPM1(NM_003859.1):c.679-7_679-6insT (p.(=)), DPM1(NM_003859.2):c.679-7_679-6insT - DPM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
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