All transcript variants in gene DGUOK

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 1 c.115C>T - r.(115c>u) p.(Arg39*) g.74154152C>T - - - DGUOK_000004 - - - - Germline yes - - 0 - Carl Fratter
-/. - c.159G>A - r.(=) p.(=) g.74166053G>A - - - DGUOK_000006 Alamut - - rs62641680 Germline - frequency 1,4-1,9% - 0 - Andreas Laner
?/. - c.509A>G - r.(?) p.(Gln170Arg) g.74177777A>G - - - DGUOK_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/? 4 c.591G>A - r.spl? p.? g.74177859G>A - - - DGUOK_000002 - - - - Germline yes - - 0 - Carl Fratter
?/. - c.617G>A - r.(?) p.(Arg206Lys) g.74184277G>A - - - DGUOK_000005 Polyphen-2: (PSIC: 0,999), Mut.taster: disease causing - - - Germline - - - 0 - Andreas Laner
+/? 5 c.679G>A - r.(679g>a) p.(Glu227Lys) g.74184339G>A - - - DGUOK_000003 - - - - Germline yes - - 0 - Carl Fratter
+/. - c.763_766dup ACMG 5 r.(?) p.(Phe256*) g.74185328_74185331dup - - - DGUOK_000008 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
+/. - c.797T>G ACMG 5 r.(?) p.(Leu266Arg) g.74185362T>G - - - DGUOK_000007 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
./. - c.*13A>T - - - g.74185876A>T - DGUOK:c.*13A>T - chr2_001104 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.*13A>T - - - g.74185876A>T - DGUOK:c.*13A>T - chr2_001104 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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