Unique variants in gene DGUOK

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

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     
+/? 1 1 c.115C>T - r.(115c>u) p.(Arg39*) g.74154152C>T - - - DGUOK_000004 - - - - Germline yes - - - - Carl Fratter
-/. 2 - c.159G>A benign r.(=) p.(=) g.74166053G>A - DGUOK:c.159G>A (=) - DGUOK_000006 Alamut, VKGL data sharing initiative Nederland; correct HGVS to be checked - - rs62641680 Germline, CLASSIFICATION record - frequency 1,4-1,9% - - - Andreas Laner, VKGL-NL_AMC
?/. 2 - c.509A>G VUS r.(?) p.(Gln170Arg) g.74177777A>G - DGUOK:c.509A>G (Q170R) - DGUOK_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Gerard C.P. Schaafsma
+/? 1 4 c.591G>A - r.spl? p.? g.74177859G>A - - - DGUOK_000002 - - - - Germline yes - - - - Carl Fratter
?/. 1 - c.617G>A - r.(?) p.(Arg206Lys) g.74184277G>A - - - DGUOK_000005 Polyphen-2: (PSIC: 0,999), Mut.taster: disease causing - - - Germline - - - - - Andreas Laner
?/. 1 - c.638G>A VUS r.(?) p.(Gly213Glu) g.74184298G>A - DGUOK:c.638G>A (G213E) - DGUOK_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 1 5 c.679G>A - r.(679g>a) p.(Glu227Lys) g.74184339G>A - - - DGUOK_000003 - - - - Germline yes - - - - Carl Fratter
-?/. 1 - c.708-3T>C likely benign r.spl? p.? g.74185270T>C - DGUOK:c.708-3T>C - DGUOK_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.763_766dup ACMG 5 r.(?) p.(Phe256*) g.74185328_74185331dup - - - DGUOK_000008 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
+/. 1 - c.797T>G ACMG 5 r.(?) p.(Leu266Arg) g.74185362T>G - - - DGUOK_000007 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
-/. 3 - c.*13A>T benign r.(=) p.(=) g.74185876A>T - DGUOK:NM_080916.2:c.*13A>T (?), DGUOK:c.*13A>T - DGUOK_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_AMC
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