View unique variants in gene DGUOK

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

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 - - c.-62_-61insAGCG p.(=) - - - - 2 Unknown - g.74153976_74153977insAGCG - - - DGUOK_000040 MSCV_0019205 - - ; clinvar; - - - -
./. 1 - - c.-54C>A p.(=) - - - - 2 Unknown - g.74153984C>A - - - DGUOK_000041 MSCV_0019206 - - ; clinvar; - - - -
./. 1 - - c.-48G>A p.(=) - - - - 2 Unknown - g.74153990G>A - - - DGUOK_000037 MSCV_0019207 - - ; clinvar; - - - -
./. 1 - - c.-21G>T p.(=) - - - - 2 Unknown - g.74154017G>T - - - DGUOK_000038 MSCV_0019208 - - ; clinvar; - - - -
./. 1 - - c.-8T>C p.(=) - - - - 2 Unknown - g.74154030T>C - - - DGUOK_000039 MSCV_0019209 - - ; clinvar; - - - -
./. 1 - - c.-1G>A p.(=) - - - - 2 Unknown - g.74154037G>A - - - DGUOK_000028 MSCV_0019210 - - ; clinvar; - - - -
./. 1 - - c.123C>G p.(=) - - - - 2 Unknown - g.74154160C>G - - - DGUOK_000029 MSCV_0019211 - - ; clinvar; - - - -
./. 1 - - c.130G>A p.(Glu44Lys) - - - - 2 Unknown - g.74154167G>A - - - DGUOK_000030 MSCV_0019212 - - ; clinvar; - - - -
./. 1 - - c.137A>G p.(Asn46Ser) - - - - 2 Unknown - g.74154174A>G - - - DGUOK_000031 MSCV_0019213 - - ; clinvar; - - - -
./. 1 - - c.142+1G>T p.? - - - - 2 Unknown - g.74154180G>T - - - DGUOK_000032 MSCV_0019214 - - ; clinvar; - - - -
./. 1 - - c.155C>T p.(Ser52Phe) - - - - 2 Unknown - g.74166049C>T - - - DGUOK_000033 MSCV_0019215 - - ; clinvar; - - - -
./. 1 - - c.159G>A p.(=) - - - - 2 Unknown - g.74166053G>A - - - DGUOK_000034 MSCV_0019216 - - ; clinvar; - - - -
./. 1 - - c.186C>A p.(Tyr62*) - - - - 2 Unknown - g.74166080C>A - - - DGUOK_000035 MSCV_0019217 - - ; clinvar; - - - -
./. 1 - - c.251del p.(Ala86Profs*13) - - - - 2 Unknown - g.74166145del - - - DGUOK_000036 MSCV_0019218 - - ; clinvar; - - - -
./., ?/? 2 - 3/5 c.287T>C p.(Leu96Pro) probably_damaging(1) missense_variant - -, deleterious(0) 2 Unknown subst g.74173877T>C - 5.680 - DGUOK_000001 MSCV_0000833 - - clinvar; - - - -
+/+, ./. 2 - 3/5 c.313C>T p.(Arg105*) - stop_gained - - 2 Unknown subst g.74173903C>T - 3.810 - DGUOK_000002 MSCV_0000834 rs104893630 - ; clinvar, , clinVar; Ensembl; 12210798 - - -
./. 1 - - c.337T>C p.(Phe113Leu) - - - - 2 Unknown - g.74173927T>C - - - DGUOK_000006 MSCV_0019221 - - ; clinvar; - - - -
./. 1 - - c.353G>A p.(Arg118His) - - - - 2 Unknown - g.74173943G>A - - - DGUOK_000007 MSCV_0019222 - - ; clinvar; - - - -
./. 1 - - c.366G>C p.(Gln122His) - - - - 2 Unknown - g.74173956G>C - - - DGUOK_000008 MSCV_0019223 - - ; clinvar; - - - -
./. 1 - - c.423G>A p.(=) - - - - 2 Unknown - g.74174013G>A - - - DGUOK_000009 MSCV_0019224 - - ; clinvar; - - - -
+/+, ./. 2 - 3/5 c.425G>A p.(Arg142Lys) probably_damaging(0.999) missense_variant - -, deleterious(0) 2 Unknown subst g.74174015G>A - 5.680 - DGUOK_000003 MSCV_0000835 rs104893631 - ; clinvar, , clinVar; Ensembl; 12205643 - - -
./. 1 - - c.443+1G>A p.? - - - - 2 Unknown - g.74174034G>A - - - DGUOK_000010 MSCV_0019226 - - ; clinvar; - - - -
./. 1 - - c.444-11C>G p.(=) - - - - 2 Unknown - g.74177701C>G - - - DGUOK_000011 MSCV_0019227 - - ; clinvar; - - - -
./. 1 - - c.462T>A p.(Asn154Lys) - - - - 2 Unknown - g.74177730T>A - - - DGUOK_000012 MSCV_0019228 - - ; clinvar; - - - -
./. 1 - - c.509A>G p.(Gln170Arg) - - - - 2 Unknown - g.74177777A>G - - - DGUOK_000013 MSCV_0019229 - - ; clinvar; - - - -
./. 1 - - c.568A>T p.(Ile190Phe) - - - - 2 Unknown - g.74177836A>T - - - DGUOK_000014 MSCV_0019230 - - ; clinvar; - - - -
./. 1 - - c.592-9del p.(=) - - - - 2 Unknown - g.74184243del - - - DGUOK_000015 MSCV_0019231 - - ; clinvar; - - - -
./. 1 - - c.602_603del p.(Arg202Thrfs*13) - - - - 2 Unknown - g.74184262_74184263del - - - DGUOK_000016 MSCV_0019232 - - ; clinvar; - - - -
./. 1 - - c.608_609del p.(Tyr204Profs*11) - - - - 2 Unknown - g.74184268_74184269del - - - DGUOK_000017 MSCV_0019233 - - ; clinvar; - - - -
./. 1 - - c.630G>A p.(=) - - - - 2 Unknown - g.74184290G>A - - - DGUOK_000018 MSCV_0019234 - - ; clinvar; - - - -
./. 1 - - c.664C>T p.(=) - - - - 2 Unknown - g.74184324C>T - - - DGUOK_000019 MSCV_0019235 - - ; clinvar; - - - -
+/+, ./. 2 - 5/7 c.679G>A p.(Glu227Lys) probably_damaging(0.994) missense_variant - -, deleterious(0) 2 Unknown subst g.74184339G>A - 5.010 - DGUOK_000004 MSCV_0000836 rs104893632 - ; clinvar, , clinVar; Ensembl; 12205643 - - -
./. 1 - - c.705G>A p.(=) - - - - 2 Unknown - g.74184365G>A - - - DGUOK_000020 MSCV_0019237 - - ; clinvar; - - - -
./. 1 - - c.705_706insAAGT p.? - - - - 2 Unknown - g.74184365_74184366insAAGT - - - DGUOK_000021 MSCV_0019238 - - ; clinvar; - - - -
./. 1 - - c.708-3T>C p.? - - - - 2 Unknown - g.74185270T>C - - - DGUOK_000022 MSCV_0019239 - - ; clinvar; - - - -
./. 1 - - c.749T>C p.(Leu250Ser) - - - - 2 Unknown - g.74185314T>C - - - DGUOK_000023 MSCV_0019240 - - ; clinvar; - - - -
./. 1 - - c.761_762insTGAT p.(Phe256*) - - - - 2 Unknown - g.74185326_74185327insTGAT - - - DGUOK_000024 MSCV_0019241 - - ; clinvar; - - - -
+/+, ./. 2 - 6/7 c.763G>T p.(Asp255Tyr) probably_damaging(0.997) missense_variant - -, deleterious(0) 2 Unknown subst g.74185328G>T - 5.290 - DGUOK_000005 MSCV_0000837 rs104893633 - ; clinvar, , clinVar; Ensembl; 15887277 - - -
./. 1 - - c.*13A>T p.(=) - - - - 2 Unknown - g.74185876A>T - - - DGUOK_000025 MSCV_0019243 - - ; clinvar; - - - -
./. 1 - - c.*120G>A p.(=) - - - - 2 Unknown - g.74185983G>A - - - DGUOK_000026 MSCV_0019244 - - ; clinvar; - - - -
./. 1 - - c.*202_*203insTTAAG p.(=) - - - - 2 Unknown - g.74186065_74186066insTTAAG - - - DGUOK_000027 MSCV_0019245 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium