View unique variants in gene COX10

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_001303.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.-170C>G p.(=) - - - - 17 Unknown - g.13972753C>G - - - COX10_000055 - - - ; clinvar; - - - -
./. 1 - - c.-112G>A p.(=) - - - - 17 Unknown - g.13972811G>A - - - COX10_000056 - - - ; clinvar; - - - -
./. 1 - - c.-109G>A p.(=) - - - - 17 Unknown - g.13972814G>A - - - COX10_000057 - - - ; clinvar; - - - -
./. 1 - - c.-90G>T p.(=) - - - - 17 Unknown - g.13972833G>T - - - COX10_000058 - - - ; clinvar; - - - -
./. 1 - - c.-63C>T p.(=) - - - - 17 Unknown - g.13972860C>T - - - COX10_000048 - - - ; clinvar; - - - -
./. 1 - - c.-40G>A p.(=) - - - - 17 Unknown - g.13972883G>A - - - COX10_000049 - - - ; clinvar; - - - -
./. 1 - - c.-29C>A p.(=) - - - - 17 Unknown - g.13972894C>A - - - COX10_000050 - - - ; clinvar; - - - -
./. 1 - - c.-24G>A p.(=) - - - - 17 Unknown - g.13972899G>A - - - COX10_000051 - - - ; clinvar; - - - -
./. 1 - - c.2T>C p.? - - - - 17 Unknown - g.13972924T>C - - - COX10_000052 - - - ; clinvar; - - - -
./. 1 - - c.33C>T p.(=) - - - - 17 Unknown - g.13972955C>T - - - COX10_000053 - - - ; clinvar; - - - -
./. 1 - - c.64T>A p.(Trp22Arg) - - - - 17 Unknown - g.13977660T>A - - - COX10_000054 - - - ; clinvar; - - - -
./. 1 - - c.83C>T p.(Thr28Ile) - - - - 17 Unknown - g.13977679C>T - - - COX10_000041 - - - ; clinvar; - - - -
./. 1 - - c.123G>A p.(=) - - - - 17 Unknown - g.13977719G>A - - - COX10_000042 - - - ; clinvar; - - - -
./. 1 - - c.173G>A p.(Arg58His) - - - - 17 Unknown - g.13977769G>A - - - COX10_000043 - - - ; clinvar; - - - -
./. 1 - - c.184A>T p.(Thr62Ser) - - - - 17 Unknown - g.13980058A>T - - - COX10_000044 - - - ; clinvar; - - - -
./. 1 - - c.192G>A p.(=) - - - - 17 Unknown - g.13980066G>A - - - COX10_000045 - - - ; clinvar; - - - -
./. 1 - - c.290A>G p.(Tyr97Cys) - - - - 17 Unknown - g.13980164A>G - - - COX10_000046 - - - ; clinvar; - - - -
./. 1 - - c.476G>A p.(Arg159Gln) - - - - 17 Unknown - g.13980350G>A - - - COX10_000047 - - - ; clinvar; - - - -
./. 1 - - c.504G>A p.(=) - - - - 17 Unknown - g.14005439G>A - - - COX10_000040 - - - ; clinvar; - - - -
./. 1 - - c.543G>A p.(=) - - - - 17 Unknown - g.14005478G>A - - - COX10_000006 - - - ; clinvar; - - - -
+/+, ./. 2 - 4/7 c.587C>A p.(Thr196Lys) probably_damaging(1) missense_variant - -, deleterious(0) 17 Unknown subst g.14005522C>A - 5.260 - COX10_000001 - rs104894555 - ; clinvar, , clinVar; Ensembl; 12928484 - - -
+/+, ./. 2 - 4/7 c.612C>A p.(Asn204Lys) probably_damaging(1) missense_variant - -, deleterious(0) 17 Unknown subst g.14005547C>A - 5.130 - COX10_000002 - rs104894560 - ; clinvar, , clinVar; Ensembl; 10767350 - - -
./. 1 - - c.624+4A>G p.? - - - - 17 Unknown - g.14005563A>G - - - COX10_000007 - - - ; clinvar; - - - -
+/+, ./. 2 - 5/7 c.674C>T p.(Pro225Leu) probably_damaging(0.998) missense_variant - -, tolerated(0.68) 17 Unknown subst g.14063243C>T - 4.970 - COX10_000003 - rs104894556 - ; clinvar, , clinVar; Ensembl; 12928484 - - -
./. 1 - - c.699A>G p.(=) - - - - 17 Unknown - g.14095309A>G - - - COX10_000008 - - - ; clinvar; - - - -
./. 1 - - c.909C>T p.(=) - - - - 17 Unknown - g.14095519C>T - - - COX10_000009 - - - ; clinvar; - - - -
./. 1 - - c.928+12G>A p.(=) - - - - 17 Unknown - g.14095550G>A - - - COX10_000010 - - - ; clinvar; - - - -
./. 1 - - c.929-12_929-11insCCC p.(=) - - - - 17 Unknown - g.14110115_14110116insCCC - - - COX10_000059 - - - ; clinvar; - - - -
./. 1 - - c.929-7C>T p.(=) - - - - 17 Unknown - g.14110120C>T - - - COX10_000060 - - - ; clinvar; - - - -
./. 1 - - c.981C>T p.(=) - - - - 17 Unknown - g.14110179C>T - - - COX10_000036 - - - ; clinvar; - - - -
+/+, ./. 2 - 7/7 c.1007A>G p.(Asp336Gly) probably_damaging(1) missense_variant - -, deleterious(0) 17 Unknown subst g.14110205A>G - 4.960 - COX10_000004 - rs104894557 - ; clinvar, , clinvar; ensembl; 12928484 - - -
+/+, ./. 2 - 7/7 c.1007A>T p.(Asp336Val) probably_damaging(1) missense_variant - -, deleterious(0) 17 Unknown subst g.14110205A>T - 4.960 - COX10_000005 - rs104894557 - ; clinvar, , clinvar; ensembl; 12928484 - - -
./. 1 - - c.1038G>A p.(=) - - - - 17 Unknown - g.14110236G>A - - - COX10_000037 - - - ; clinvar; - - - -
./. 1 - - c.*13G>A p.(=) - - - - 17 Unknown - g.14110543G>A - - - COX10_000038 - - - ; clinvar; - - - -
./. 1 - - c.*139_*140del p.(=) - - - - 17 Unknown - g.14110669_14110670del - - - COX10_000011 - - - ; clinvar; - - - -
./. 1 - - c.*139_*141del p.(=) - - - - 17 Unknown - g.14110669_14110671del - - - COX10_000012 - - - ; clinvar; - - - -
./. 1 - - c.*152T>A p.(=) - - - - 17 Unknown - g.14110682T>A - - - COX10_000013 - - - ; clinvar; - - - -
./. 1 - - c.*297G>A p.(=) - - - - 17 Unknown - g.14110827G>A - - - COX10_000014 - - - ; clinvar; - - - -
./. 1 - - c.*322T>C p.(=) - - - - 17 Unknown - g.14110852T>C - - - COX10_000015 - - - ; clinvar; - - - -
./. 1 - - c.*371A>G p.(=) - - - - 17 Unknown - g.14110901A>G - - - COX10_000016 - - - ; clinvar; - - - -
./. 1 - - c.*408G>A p.(=) - - - - 17 Unknown - g.14110938G>A - - - COX10_000017 - - - ; clinvar; - - - -
./. 1 - - c.*438G>C p.(=) - - - - 17 Unknown - g.14110968G>C - - - COX10_000018 - - - ; clinvar; - - - -
./. 1 - - c.*535C>A p.(=) - - - - 17 Unknown - g.14111065C>A - - - COX10_000019 - - - ; clinvar; - - - -
./. 1 - - c.*563_*564insG p.(=) - - - - 17 Unknown - g.14111093_14111094insG - - - COX10_000020 - - - ; clinvar; - - - -
./. 1 - - c.*591_*592del p.(=) - - - - 17 Unknown - g.14111121_14111122del - - - COX10_000021 - - - ; clinvar; - - - -
./. 1 - - c.*628C>G p.(=) - - - - 17 Unknown - g.14111158C>G - - - COX10_000022 - - - ; clinvar; - - - -
./. 1 - - c.*646C>A p.(=) - - - - 17 Unknown - g.14111176C>A - - - COX10_000023 - - - ; clinvar; - - - -
./. 1 - - c.*646C>G p.(=) - - - - 17 Unknown - g.14111176C>G - - - COX10_000024 - - - ; clinvar; - - - -
./. 1 - - c.*739A>G p.(=) - - - - 17 Unknown - g.14111269A>G - - - COX10_000025 - - - ; clinvar; - - - -
./. 1 - - c.*757T>C p.(=) - - - - 17 Unknown - g.14111287T>C - - - COX10_000026 - - - ; clinvar; - - - -
./. 1 - - c.*823C>T p.(=) - - - - 17 Unknown - g.14111353C>T - - - COX10_000027 - - - ; clinvar; - - - -
./. 1 - - c.*831_*832del p.(=) - - - - 17 Unknown - g.14111361_14111362del - - - COX10_000028 - - - ; clinvar; - - - -
./. 1 - - c.*974C>A p.(=) - - - - 17 Unknown - g.14111504C>A - - - COX10_000029 - - - ; clinvar; - - - -
./. 1 - - c.*1076T>C p.(=) - - - - 17 Unknown - g.14111606T>C - - - COX10_000030 - - - ; clinvar; - - - -
./. 1 - - c.*1078C>T p.(=) - - - - 17 Unknown - g.14111608C>T - - - COX10_000031 - - - ; clinvar; - - - -
./. 1 - - c.*1101C>T p.(=) - - - - 17 Unknown - g.14111631C>T - - - COX10_000032 - - - ; clinvar; - - - -
./. 1 - - c.*1324C>T p.(=) - - - - 17 Unknown - g.14111854C>T - - - COX10_000033 - - - ; clinvar; - - - -
./. 1 - - c.*1367G>A p.(=) - - - - 17 Unknown - g.14111897G>A - - - COX10_000034 - - - ; clinvar; - - - -
./. 1 - - c.*1385C>T p.(=) - - - - 17 Unknown - g.14111915C>T - - - COX10_000035 - - - ; clinvar; - - - -
./. 1 - - c.*1459del p.(=) - - - - 17 Unknown - g.14111989del - - - COX10_000039 - - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium