Full data view for gene DGUOK

Information The variants shown are described using the NM_080916.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.115C>T - r.(115c>u) p.(Arg39*) Both (homozygous) g.74154152C>T - - - DGUOK_000004 - - - - Germline yes - - 0 - DNA SEQ Blood - MTDPS-3 - - - - - ? (unknown) - - 0 - - 1 Carl Fratter
-/. - c.159G>A - r.(=) p.(=) Parent #1 g.74166053G>A - - - DGUOK_000006 Alamut - - rs62641680 Germline - frequency 1,4-1,9% - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.159G>A benign r.(=) p.(=) Unknown g.74166053G>A - DGUOK:c.159G>A (=) - DGUOK_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.509A>G - r.(?) p.(Gln170Arg) Unknown g.74177777A>G - - - DGUOK_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.509A>G VUS r.(?) p.(Gln170Arg) Unknown g.74177777A>G - DGUOK:c.509A>G (Q170R) - DGUOK_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 4 c.591G>A - r.spl? p.? Maternal (confirmed) g.74177859G>A - - - DGUOK_000002 - - - - Germline yes - - 0 - DNA SEQ Blood - MTDPS-3 - - - - no ? (unknown) - - 0 - - 1 Carl Fratter
?/. - c.617G>A - r.(?) p.(Arg206Lys) Parent #1 g.74184277G>A - - - DGUOK_000005 Polyphen-2: (PSIC: 0,999), Mut.taster: disease causing - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.638G>A VUS r.(?) p.(Gly213Glu) Unknown g.74184298G>A - DGUOK:c.638G>A (G213E) - DGUOK_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 5 c.679G>A - r.(679g>a) p.(Glu227Lys) Paternal (confirmed) g.74184339G>A - - - DGUOK_000003 - - - - Germline yes - - 0 - DNA SEQ Blood - MTDPS-3 - - - - no ? (unknown) - - 0 - - 1 Carl Fratter
-?/. - c.708-3T>C likely benign r.spl? p.? Unknown g.74185270T>C - DGUOK:c.708-3T>C - DGUOK_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.763_766dup ACMG 5 r.(?) p.(Phe256*) Both (homozygous) g.74185328_74185331dup - - - DGUOK_000008 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MTDPS-3 - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/. - c.797T>G ACMG 5 r.(?) p.(Leu266Arg) Both (homozygous) g.74185362T>G - - - DGUOK_000007 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MTDPS-3 - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
-/. - c.*13A>T benign r.(=) p.(=) Unknown g.74185876A>T - DGUOK:c.*13A>T - DGUOK_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*13A>T benign r.(=) p.(=) Unknown g.74185876A>T - DGUOK:c.*13A>T - DGUOK_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*13A>T benign r.(=) p.(=) Unknown g.74185876A>T - DGUOK:NM_080916.2:c.*13A>T (?) - DGUOK_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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