All transcript variants in gene DOLK

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_014908.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-58232A>C likely benign r.(?) p.(=) g.131767814T>G - NUP188(NM_015354.1):c.4737+5T>G (p.?) - DOLK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-55636C>T likely benign r.(?) p.(=) g.131765218G>A - NUP188(NM_015354.2):c.4260G>A (p.L1420=) - DOLK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-52473G>A VUS r.(?) p.(=) g.131762055C>T - NUP188(NM_015354.2):c.3814C>T (p.R1272W) - DOLK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-47608T>C VUS r.(?) p.(=) g.131757190A>G - NUP188(NM_015354.2):c.3143A>G (p.Y1048C) - DOLK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-34075G>A VUS r.(?) p.(=) g.131743657C>T - NUP188(NM_015354.2):c.1504C>T (p.L502F) - DOLK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-33370G>C VUS r.(?) p.(=) g.131742952C>G - NUP188(NM_015354.2):c.1337C>G (p.P446R) - DOLK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-9073G>C VUS r.(?) p.(=) g.131718655C>G - NUP188(NM_015354.2):c.188C>G (p.A63G) - DOLK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1dup benign r.(?) p.(=) g.131709582dup - - - DOLK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.159C>G likely benign r.(?) p.(=) g.131709424G>C - DOLK(NM_014908.3):c.159C>G (p.A53=) - DOLK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.186G>A benign r.(?) p.(=) g.131709397C>T - - - DOLK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.964C>T likely benign r.(?) p.(Arg322Trp) g.131708619G>A - DOLK(NM_014908.3):c.964C>T (p.(Arg322Trp)) - DOLK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1000A>T VUS r.(?) p.(Thr334Ser) g.131708583T>A - - - DOLK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1079A>G likely benign r.(?) p.(Tyr360Cys) g.131708504T>C - DOLK(NM_014908.3):c.1079A>G (p.Y360C) - DOLK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 c.1324G>A - r.(?) p.(Ala442Thr) g.131708259C>T g.128945980C>T - - DOLK_000001 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs143641133 Germline ? - - 0 - Cordula Haas
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