All transcript variants in gene DGUOK

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
?/? - 3/5 c.287T>C p.(Leu96Pro) probably_damaging(1) missense_variant - deleterious(0) subst g.74173877T>C - 5.680 - DGUOK_000001 - - ; - - - LOVD
+/+ - 3/5 c.313C>T p.(Arg105*) - stop_gained - - subst g.74173903C>T - 3.810 - DGUOK_000002 rs104893630 - ; clinVar; Ensembl; 12210798 - - LOVD
+/+ - 3/5 c.425G>A p.(Arg142Lys) probably_damaging(0.999) missense_variant - deleterious(0) subst g.74174015G>A - 5.680 - DGUOK_000003 rs104893631 - ; clinVar; Ensembl; 12205643 - - LOVD
+/+ - 5/7 c.679G>A p.(Glu227Lys) probably_damaging(0.994) missense_variant - deleterious(0) subst g.74184339G>A - 5.010 - DGUOK_000004 rs104893632 - ; clinVar; Ensembl; 12205643 - - LOVD
+/+ - 6/7 c.763G>T p.(Asp255Tyr) probably_damaging(0.997) missense_variant - deleterious(0) subst g.74185328G>T - 5.290 - DGUOK_000005 rs104893633 - ; clinVar; Ensembl; 15887277 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium