Full data view for gene DDOST

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.

33 entries on 1 page. Showing entries 1 - 33.
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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.-1902516_*438131del r.? p.? Unknown - pathogenic g.20540741_22890410del g.20214248_22563917del - - HSPG2_000007 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.22= r.(=) p.(Gly8=) Unknown - benign g.20987873G>C - DDOST(NM_005216.5):c.-30C>G - DDOST_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.131G>C r.(?) p.(Gly44Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.366C>T r.(?) p.(Gly122=) Unknown - benign g.20982631G>A g.20656138G>A DDOST(NM_005216.5):c.315C>T (p.G105=) - DDOST_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.507+18C>T r.(=) p.(=) Unknown - benign g.20982151G>A g.20655658G>A DDOST(NM_005216.5):c.456+18C>T - DDOST_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.559G>A r.(?) p.(Val187Ile) Unknown - likely benign g.20981976C>T g.20655483C>T DDOST(NM_005216.5):c.508G>A (p.V170I) - DDOST_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559G>A r.(?) p.(Val187Ile) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/+? 6 c.650G>A r.(?) p.(Gly217Asp) Maternal (confirmed) - likely pathogenic g.20981153C>T g.20654660C>T - - DDOST_000001 0.64 of reads PubMed: Jones 2012 - - Germline - - - - - DNA SEQ - - CDG1R 22305527-FamPatII1 PubMed: Jones 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister M - United States Northern European - - - - 1 Johan den Dunnen
-/. - c.697-16C>T r.(=) p.(=) Unknown - benign g.20980880G>A g.20654387G>A DDOST(NM_005216.5):c.646-16C>T - DDOST_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.762C>T r.(?) p.(Arg254=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.866A>G r.(?) p.(Tyr289Cys) Unknown - VUS g.20980247T>C - DDOST(NM_005216.4):c.866A>G (p.Y289C) - DDOST_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.944G>A r.(?) p.(Arg315Gln) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
?/. - c.1187G>A r.(?) p.(Arg396Gln) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/+? 11 c.1265_1286del r.(?) p.(Ile422Thrfs*7) Paternal (confirmed) - likely pathogenic g.20978958_20978979del g.20652465_20652486del 1265_1286del22 - DDOST_000002 0.41 of reads PubMed: Jones 2012 - - Germline - - - - - DNA SEQ - - CDG1R 22305527-FamPatII1 PubMed: Jones 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister M - United States Northern European - - - - 1 Johan den Dunnen
-/. - c.*1651T>A r.(=) p.(=) Unknown - benign g.20977221A>T - PINK1(NM_032409.3):c.*37A>T - DDOST_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1861C>T r.(=) p.(=) Unknown - VUS g.20977011G>A - PINK1(NM_032409.2):c.1573G>A (p.D525N) - PINK1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1863_*1866dup r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1870G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1872T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1872T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1872T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1872T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2113G>A r.(=) p.(=) Unknown - benign g.20976759C>T g.20650266C>T PINK1(NM_032409.3):c.1489-168C>T - PINK1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3162G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3162G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3270G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3274G>A r.(=) p.(=) Unknown - likely benign g.20975598C>T - PINK1(NM_032409.2):c.1362C>T (p.Y454=) - DDOST_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3737C>T r.(=) p.(=) Unknown - likely benign g.20975135G>A - PINK1(NM_032409.2):c.1251+10G>A - DDOST_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3767C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3767C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3851C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3873G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4070T>C r.(=) p.(=) Unknown - benign g.20974802A>G g.20648309A>G PINK1(NM_032409.3):c.1124-196A>G - PINK1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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