View unique variants in gene C10orf2

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

32 entries on 1 page. Showing entries 1 - 32.
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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     
+?/+?, ./. 2 - 1/5 c.247C>T p.(Pro83Ser) possibly_damaging(0.772) missense_variant - -, deleterious(0.04) 10 Unknown subst g.102748214C>T - 5.590 - C10orf2_000022 MSCV_0000232 rs386834147 - ; clinvar, , clinVar; ensembl; 22928142 - - -
./. 1 - - c.331del p.(Leu112Serfs*3) - - - - 10 Unknown - g.102748298del - - - C10orf2_000031 MSCV_0016324 - - ; clinvar; - - - -
./. 1 - - c.904C>T p.(Arg302Trp) - - - - 10 Unknown - g.102748871C>T - - - C10orf2_000032 MSCV_0016325 - - ; clinvar; - - - -
+/+, ./. 2 - 1/5 c.908G>A p.(Arg303Gln) possibly_damaging(0.684) missense_variant - -, deleterious(0.02) 10 Unknown subst g.102748875G>A - 5.900 - C10orf2_000023 MSCV_0000233 rs137852956 - ; clinvar, , clinVar; Ensembl; 19353676 - - -
+/+ 1 - 1/5 c.944G>A p.(Trp315*) - stop_gained - - 10 Unknown subst g.102748911G>A - 5.900 - C10orf2_000020 MSCV_0000234 rs111033575 - ; clinVar; Ensembl; 11431692 - - -
./. 2 - 1/5 c.944G>T p.(Trp315Leu) benign(0.167) missense_variant - -, deleterious(0.01) 10 Unknown subst g.102748911G>T - 5.900 - C10orf2_000021 MSCV_0000235 rs111033575 - clinvar; 11431692 - - -
+/+, ./. 2 - 1/5 c.952G>A p.(Ala318Thr) possibly_damaging(0.877) missense_variant - -, deleterious(0.01) 10 Unknown subst g.102748919G>A - 5.900 - C10orf2_000011 MSCV_0000237 rs80356542 - ; clinvar, , clinVar; Ensembl; 20301746;17921179 - - -
+/+ 1 - 1/5 c.955A>C p.(Lys319Gln) possibly_damaging(0.823) missense_variant - deleterious(0.01) 10 Unknown subst g.102748922A>C - 5.900 - C10orf2_000012 MSCV_0000238 rs80356543 - ; clinVar; Ensembl; 15668446;20301746 - - -
+/+, ./. 2 - 1/5 c.955A>G p.(Lys319Glu) possibly_damaging(0.864) missense_variant - -, deleterious(0.01) 10 Unknown subst g.102748922A>G - 5.900 - C10orf2_000013 MSCV_0000239 rs80356543 - ; clinvar, , clinvar; ensembl; 15668446;20301746 - - -
+/+, ./. 2 - 1/5 c.1001G>A p.(Arg334Gln) benign(0.158) missense_variant - -, tolerated(0.06) 10 Unknown subst g.102748968G>A - 4.940 - C10orf2_000024 MSCV_0001850 rs28937887 - ; clinvar, , clinVar; Ensembl; 12872260 - - -
./. 1 - - c.1003C>A p.(Pro335Thr) - - - - 10 Unknown - g.102748970C>A - - - C10orf2_000029 MSCV_0016331 - - ; clinvar; - - - -
./. 1 - - c.1052A>G p.(Asn351Ser) - - - - 10 Unknown - g.102749019A>G - - - C10orf2_000030 MSCV_0016332 - - ; clinvar; - - - -
+/+, ./. 2 - 1/5 c.1061G>C p.(Arg354Pro) benign(0.016) missense_variant - -, tolerated(0.23) 10 Unknown subst g.102749028G>C - 4.030 - C10orf2_000014 MSCV_0000241 rs111033576 - ; clinvar, , clinVar; Ensembl; 11431692 - - -
+/+, ./. 2 - 1/5 c.1075G>A p.(Ala359Thr) possibly_damaging(0.907) missense_variant - -, deleterious(0.01) 10 Unknown subst g.102749042G>A - 5.900 - C10orf2_000015 MSCV_0000242 rs111033573 - ; clinvar, , clinVar; Ensembl; 11431692;20659899 - - -
./. 1 - 1/5 c.1075G>T p.(Ala359Ser) possibly_damaging(0.54) missense_variant - tolerated(0.19) 10 Unknown subst g.102749042G>T - 5.900 - C10orf2_000016 MSCV_0000244 rs111033573 - ; 11431692;20659899 - - -
+/+, ./. 2 - 1/5 c.1106C>A p.(Ser369Tyr) possibly_damaging(0.642) missense_variant - -, deleterious(0) 10 Unknown subst g.102749073C>A - 6.030 - C10orf2_000017 MSCV_0000245 rs111033579 - ; clinvar, , clinVar; Ensembl; 12163192 - - -
./. 1 - 1/5 c.1106C>T p.(Ser369Phe) possibly_damaging(0.898) missense_variant - deleterious(0) 10 Unknown subst g.102749073C>T - 6.030 - C10orf2_000018 MSCV_0000247 rs111033579 - ; 12163192 - - -
+/+, ./. 2 - 1/5 c.1120C>T p.(Arg374Trp) benign(0.327) missense_variant - -, deleterious(0) 10 Unknown subst g.102749087C>T - 4.040 - C10orf2_000019 MSCV_0000248 rs267606682 - ; clinvar, , clinVar; Ensembl; 19513767 - - -
./. 1 - - c.1121G>A p.(Arg374Gln) - - - - 10 Unknown - g.102749088G>A - - - C10orf2_000027 MSCV_0016337 - - ; clinvar; - - - -
+/+, ./. 2 - 1/5 c.1142T>C p.(Leu381Pro) benign(0.236) missense_variant - -, deleterious(0.03) 10 Unknown subst g.102749109T>C - 6.030 - C10orf2_000001 MSCV_0000249 rs111033577 - ; clinvar, , clinVar; Ensembl; 11431692;20659899 - - -
./. 1 - 1/5 c.1142T>G p.(Leu381Arg) probably_damaging(0.954) missense_variant - deleterious(0) 10 Unknown subst g.102749109T>G - 6.030 - C10orf2_000002 MSCV_0000251 rs111033577 - ; 11431692;20659899 - - -
./. 1 - - c.1196A>G p.(Asn399Ser) - - - - 10 Unknown - g.102749163A>G - - - C10orf2_000028 MSCV_0016339 - - ; clinvar; - - - -
+/+, ./. 2 - 2/5 c.1287C>T p.(=) - synonymous_variant - - 10 Unknown subst g.102749444C>T - 2.790 - C10orf2_000003 MSCV_0000252 rs80356541 - ; clinvar, , clinVar; Ensembl; 16135556;20301746 - - -
+?/+?, ./. 2 - 2/5 c.1366C>G p.(Leu456Val) possibly_damaging(0.739) missense_variant - -, deleterious(0) 10 Unknown subst g.102749523C>G - 6.040 - C10orf2_000004 MSCV_0000253 rs386834145 - ; clinvar, , clinVar; ensembl; 22353293 - - -
+/+, ./. 2 - 2/5 c.1370C>T p.(Thr457Ile) possibly_damaging(0.703) missense_variant - -, deleterious(0.04) 10 Unknown subst g.102749527C>T - 6.040 - C10orf2_000005 MSCV_0000254 rs80356544 - ; clinvar, , clinVar; Ensembl; 17722119;20301746 - - -
./. 1 - - c.1374G>T p.(Gln458His) - - - - 10 Unknown - g.102749531G>T - - - C10orf2_000026 MSCV_0016343 - - ; clinvar; - - - -
+?/+?, ./. 2 - 2/5 c.1387C>T p.(Arg463Trp) possibly_damaging(0.846) missense_variant - -, deleterious(0.02) 10 Unknown subst g.102749544C>T - 3.030 - C10orf2_000006 MSCV_0000255 rs386834146 - ; clinvar, , clinVar; ensembl; 22928142 - - -
./. 1 - - c.1391T>C p.(Leu464Pro) - - - - 10 Unknown - g.102749548T>C - - - C10orf2_000025 MSCV_0016345 - - ; clinvar; - - - -
+/+, ./. 2 - 2/5 c.1422G>A p.(Trp474*) - stop_gained - - 10 Unknown subst g.102749579G>A - 6.040 - C10orf2_000007 MSCV_0000256 rs111033574 - ; clinvar, , clinVar; Ensembl; 11431692 - - -
./. 1 - 2/5 c.1422G>T p.(Trp474Cys) probably_damaging(0.98) missense_variant - deleterious(0) 10 Unknown subst g.102749579G>T - 6.040 - C10orf2_000008 MSCV_0000257 rs111033574 - ; 11431692 - - -
+/+, ./. 2 - 2/5 c.1423G>C p.(Ala475Pro) probably_damaging(0.972) missense_variant - -, deleterious(0.01) 10 Unknown subst g.102749580G>C - 6.040 - C10orf2_000009 MSCV_0000258 rs111033572 - ; clinvar, , clinVar; Ensembl; 10522883;11431692 - - -
+/+, ./. 2 - 3/5 c.1523A>G p.(Tyr508Cys) probably_damaging(0.986) missense_variant - -, deleterious(0.01) 10 Unknown subst g.102750231A>G - 5.730 - C10orf2_000010 MSCV_0000259 rs80356540 - ; clinvar, , clinVar; Ensembl; 17921179;20301746;16135556 - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium