All variants in the DDOST 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_005216.4 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-1902516_*438131del r.? p.? - pathogenic g.20540741_22890410del g.20214248_22563917del - - HSPG2_000007 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-/. - c.22= r.(=) p.(Gly8=) - benign g.20987873G>C - DDOST(NM_005216.4):c.22C>G (p.R8G) - DDOST_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.131G>C r.(?) p.(Gly44Ala) - VUS g.20987764C>G g.20661271C>G DDOST(NM_005216.4):c.131G>C (p.(Gly44Ala)) - DDOST_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.366C>T r.(?) p.(Gly122=) - benign g.20982631G>A g.20656138G>A DDOST(NM_005216.4):c.366C>T (p.G122=) - DDOST_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.507+18C>T r.(=) p.(=) - benign g.20982151G>A g.20655658G>A DDOST(NM_005216.4):c.507+18C>T - DDOST_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.559G>A r.(?) p.(Val187Ile) - likely benign g.20981976C>T g.20655483C>T DDOST(NM_005216.4):c.559G>A (p.V187I) - DDOST_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.559G>A r.(?) p.(Val187Ile) - VUS g.20981976C>T g.20655483C>T - - DDOST_000004 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111334879 Germline - 2/2795 individuals - 0 - Mohammed Faruq
+?/+? 6 c.650G>A r.(?) p.(Gly217Asp) - likely pathogenic g.20981153C>T g.20654660C>T - - DDOST_000001 0.64 of reads PubMed: Jones 2012 - - Germline - - - 0 - Johan den Dunnen
-/. - c.697-16C>T r.(=) p.(=) - benign g.20980880G>A g.20654387G>A DDOST(NM_005216.4):c.697-16C>T - DDOST_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.762C>T r.(?) p.(Arg254=) - likely benign g.20980799G>A g.20654306G>A DDOST(NM_005216.4):c.762C>T (p.R254=) - DDOST_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.866A>G r.(?) p.(Tyr289Cys) - VUS g.20980247T>C - DDOST(NM_005216.4):c.866A>G (p.Y289C) - DDOST_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.944G>A r.(?) p.(Arg315Gln) - VUS g.20980169C>T g.20653676C>T - - DDOST_000014 conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117925699 Germline - 14/2794 individuals - 0 - Mohammed Faruq
?/. - c.1187G>A r.(?) p.(Arg396Gln) - VUS g.20979148C>T g.20652655C>T - - DDOST_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74526704 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+?/+? 11 c.1265_1286del r.(?) p.(Ile422Thrfs*7) - likely pathogenic g.20978958_20978979del g.20652465_20652486del 1265_1286del22 - DDOST_000002 0.41 of reads PubMed: Jones 2012 - - Germline - - - 0 - Johan den Dunnen
?/. - c.*1861C>T r.(=) p.(=) - VUS g.20977011G>A - PINK1(NM_032409.2):c.1573G>A (p.D525N) - PINK1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.*1863_*1866dup r.(=) p.(=) - pathogenic g.20977008_20977011dup g.20650515_20650518dup PINK1(NM_032409.2):c.1570_1573dupTTAG (p.D525Vfs*38) - PINK1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*1870G>A r.(=) p.(=) - likely benign g.20977002C>T g.20650509C>T PINK1(NM_032409.3):c.1564C>T (p.L522=) - DDOST_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*1872T>G r.(=) p.(=) - benign g.20977000A>C g.20650507A>C PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T) - PINK1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*1872T>G r.(=) p.(=) - benign g.20977000A>C g.20650507A>C PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T) - PINK1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.*1872T>G r.(=) p.(=) - benign g.20977000A>C g.20650507A>C PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T) - PINK1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*1872T>G r.(=) p.(=) - benign g.20977000A>C g.20650507A>C PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T) - PINK1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.*2113G>A r.(=) p.(=) - benign g.20976759C>T g.20650266C>T PINK1(NM_032409.2):c.1489-168C>T - PINK1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.*3162G>A r.(=) p.(=) - pathogenic g.20975710C>T g.20649217C>T PINK1(NM_032409.2):c.1474C>T (p.R492*), PINK1(NM_032409.3):c.1474C>T (p.R492*) - PINK1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.*3162G>A r.(=) p.(=) - pathogenic g.20975710C>T g.20649217C>T PINK1(NM_032409.2):c.1474C>T (p.R492*), PINK1(NM_032409.3):c.1474C>T (p.R492*) - PINK1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.*3270G>A r.(=) p.(=) - pathogenic g.20975602C>T g.20649109C>T PINK1(NM_032409.2):c.1366C>T (p.Q456*) - PINK1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*3274G>A r.(=) p.(=) - likely benign g.20975598C>T - PINK1(NM_032409.2):c.1362C>T (p.Y454=) - DDOST_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3737C>T r.(=) p.(=) - likely benign g.20975135G>A - PINK1(NM_032409.2):c.1251+10G>A - DDOST_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3767C>T r.(=) p.(=) - likely benign g.20975105G>A g.20648612G>A PINK1(NM_032409.2):c.1231G>A (p.G411S), PINK1(NM_032409.3):c.1231G>A (p.G411S) - PINK1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.*3767C>T r.(=) p.(=) - likely benign g.20975105G>A g.20648612G>A PINK1(NM_032409.2):c.1231G>A (p.G411S), PINK1(NM_032409.3):c.1231G>A (p.G411S) - PINK1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3851C>T r.(=) p.(=) - likely benign g.20975021G>A g.20648528G>A PINK1(NM_032409.2):c.1147G>A (p.A383T) - PINK1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*3873G>A r.(=) p.(=) - likely benign g.20974999C>T g.20648506C>T PINK1(NM_032409.3):c.1125C>T (p.D375=) - PINK1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*4070T>C r.(=) p.(=) - benign g.20974802A>G g.20648309A>G PINK1(NM_032409.2):c.1124-196A>G - PINK1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
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