View unique variants in gene SDHA

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

487 entries on 5 pages. Showing entries 1 - 100.
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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.-115T>C p.(=) - - - - 5 Unknown - g.218356T>C - - - SDHA_000369 MSCV_0020803 - - ; clinvar; - - - -
./. 1 - - c.-90_-89insC p.(=) - - - - 5 Unknown - g.218381_218382insC - - - SDHA_000370 MSCV_0020804 - - ; clinvar; - - - -
./. 1 - - c.-63G>A p.(=) - - - - 5 Unknown - g.218408G>A - - - SDHA_000371 MSCV_0020805 - - ; clinvar; - - - -
./. 1 - - c.-7A>C p.(=) - - - - 5 Unknown - g.218464A>C - - - SDHA_000372 MSCV_0020806 - - ; clinvar; - - - -
./. 1 - - c.-4A>G p.(=) - - - - 5 Unknown - g.218467A>G - - - SDHA_000373 MSCV_0020807 - - ; clinvar; - - - -
./. 1 - - c.-1C>T p.(=) - - - - 5 Unknown - g.218470C>T - - - SDHA_000374 MSCV_0020808 - - ; clinvar; - - - -
+/+, ./. 2 - 1/14 c.1A>C p.? benign(0.067) initiator_codon_variant - -, tolerated(0.14) 5 Unknown subst g.218471A>C - 2.450 - SDHA_000001 MSCV_0001009 rs1061517 - ; clinvar, , clinVar; Ensembl; 10746566 - - -
./. 2 - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - -, deleterious(0.02) 5 Unknown subst g.218471A>G - 2.450 - SDHA_000002 MSCV_0001010 rs1061517 - clinvar; 10746566 - - -
./. 1 - - c.2T>C p.? - - - - 5 Unknown - g.218472T>C - - - SDHA_000375 MSCV_0020811 - - ; clinvar; - - - -
./. 1 - - c.2T>G p.? - - - - 5 Unknown - g.218472T>G - - - SDHA_000376 MSCV_0020812 - - ; clinvar; - - - -
./. 1 - - c.5C>T p.(Ser2Leu) - - - - 5 Unknown - g.218475C>T - - - SDHA_000377 MSCV_0020813 - - ; clinvar; - - - -
./. 1 - - c.12C>T p.(=) - - - - 5 Unknown - g.218482C>T - - - SDHA_000378 MSCV_0020814 - - ; clinvar; - - - -
./. 1 - - c.13C>T p.(Arg5Trp) - - - - 5 Unknown - g.218483C>T - - - SDHA_000379 MSCV_0020815 - - ; clinvar; - - - -
./. 1 - - c.17G>A p.(Gly6Asp) - - - - 5 Unknown - g.218487G>A - - - SDHA_000380 MSCV_0020816 - - ; clinvar; - - - -
./. 1 - - c.18C>A p.(=) - - - - 5 Unknown - g.218488C>A - - - SDHA_000381 MSCV_0020817 - - ; clinvar; - - - -
./. 1 - - c.23C>G p.(Ser8Trp) - - - - 5 Unknown - g.218493C>G - - - SDHA_000382 MSCV_0020818 - - ; clinvar; - - - -
./. 1 - - c.24G>C p.(=) - - - - 5 Unknown - g.218494G>C - - - SDHA_000383 MSCV_0020819 - - ; clinvar; - - - -
./. 1 - - c.25C>G p.(Arg9Gly) - - - - 5 Unknown - g.218495C>G - - - SDHA_000384 MSCV_0020820 - - ; clinvar; - - - -
./. 1 - - c.40C>A p.(=) - - - - 5 Unknown - g.218510C>A - - - SDHA_000385 MSCV_0020821 - - ; clinvar; - - - -
./. 1 - - c.44G>C p.(Arg15Pro) - - - - 5 Unknown - g.218514G>C - - - SDHA_000386 MSCV_0020822 - - ; clinvar; - - - -
./. 1 - - c.45C>T p.(=) - - - - 5 Unknown - g.218515C>T - - - SDHA_000387 MSCV_0020823 - - ; clinvar; - - - -
./. 1 - - c.57C>G p.(=) - - - - 5 Unknown - g.218527C>G - - - SDHA_000388 MSCV_0020824 - - ; clinvar; - - - -
./. 1 - - c.61G>A p.(Ala21Thr) - - - - 5 Unknown - g.218531G>A - - - SDHA_000389 MSCV_0020825 - - ; clinvar; - - - -
./. 1 - - c.63+8C>T p.(=) - - - - 5 Unknown - g.218541C>T - - - SDHA_000390 MSCV_0020826 - - ; clinvar; - - - -
./. 1 - - c.64-10G>A p.(=) - - - - 5 Unknown - g.223587G>A - - - SDHA_000391 MSCV_0020827 - - ; clinvar; - - - -
./. 1 - - c.64-3C>T p.? - - - - 5 Unknown - g.223594C>T - - - SDHA_000483 MSCV_0020828 - - ; clinvar; - - - -
./. 1 - - c.86G>A p.(Gly29Glu) - - - - 5 Unknown - g.223619G>A - - - SDHA_000484 MSCV_0020829 - - ; clinvar; - - - -
./. 1 - - c.91C>T p.(Arg31*) - - - - 5 Unknown - g.223624C>T - - - SDHA_000485 MSCV_0020830 - - ; clinvar; - - - -
./. 1 - - c.92G>A p.(Arg31Gln) - - - - 5 Unknown - g.223625G>A - - - SDHA_000486 MSCV_0020831 - - ; clinvar; - - - -
./. 1 - - c.106A>G p.(Thr36Ala) - - - - 5 Unknown - g.223639A>G - - - SDHA_000480 MSCV_0020832 - - ; clinvar; - - - -
./. 1 - - c.109G>A p.(Val37Ile) - - - - 5 Unknown - g.223642G>A - - - SDHA_000481 MSCV_0020833 - - ; clinvar; - - - -
./. 1 - - c.112G>C p.(Asp38His) - - - - 5 Unknown - g.223645G>C - - - SDHA_000482 MSCV_0020834 - - ; clinvar; - - - -
./. 1 - - c.113A>T p.(Asp38Val) - - - - 5 Unknown - g.223646A>T - - - SDHA_000471 MSCV_0020835 - - ; clinvar; - - - -
./. 1 - - c.123G>A p.(=) - - - - 5 Unknown - g.223656G>A - - - SDHA_000472 MSCV_0020836 - - ; clinvar; - - - -
./. 1 - - c.125G>A p.(Arg42Lys) - - - - 5 Unknown - g.223658G>A - - - SDHA_000473 MSCV_0020837 - - ; clinvar; - - - -
./. 1 - - c.133G>A p.(Ala45Thr) - - - - 5 Unknown - g.223666G>A - - - SDHA_000446 MSCV_0020838 - - ; clinvar; - - - -
./. 1 - - c.136A>G p.(Lys46Glu) - - - - 5 Unknown - g.223669A>G - - - SDHA_000447 MSCV_0020839 - - ; clinvar; - - - -
./. 1 - - c.146A>G p.(Asp49Gly) - - - - 5 Unknown - g.223679A>G - - - SDHA_000448 MSCV_0020840 - - ; clinvar; - - - -
./. 1 - - c.150C>T p.(=) - - - - 5 Unknown - g.223683C>T - - - SDHA_000449 MSCV_0020841 - - ; clinvar; - - - -
./. 1 - - c.150+6T>G p.(=) - - - - 5 Unknown - g.223689T>G - - - SDHA_000450 MSCV_0020842 - - ; clinvar; - - - -
./. 1 - - c.150+9A>G p.(=) - - - - 5 Unknown - g.223692A>G - - - SDHA_000010 MSCV_0020843 - - ; clinvar; - - - -
./. 1 - - c.154T>A p.(Ser52Thr) - - - - 5 Unknown - g.224478T>A - - - SDHA_000011 MSCV_0020844 - - ; clinvar; - - - -
./. 1 - - c.155C>T p.(Ser52Phe) - - - - 5 Unknown - g.224479C>T - - - SDHA_000012 MSCV_0020845 - - ; clinvar; - - - -
./. 1 - - c.162G>A p.(=) - - - - 5 Unknown - g.224486G>A - - - SDHA_000013 MSCV_0020846 - - ; clinvar; - - - -
./. 1 - - c.163T>C p.(Tyr55His) - - - - 5 Unknown - g.224487T>C - - - SDHA_000014 MSCV_0020847 - - ; clinvar; - - - -
./. 1 - - c.169G>T p.(Val57Leu) - - - - 5 Unknown - g.224493G>T - - - SDHA_000015 MSCV_0020848 - - ; clinvar; - - - -
./. 1 - - c.188A>T p.(Asp63Val) - - - - 5 Unknown - g.224512A>T - - - SDHA_000016 MSCV_0020849 - - ; clinvar; - - - -
./. 1 - - c.204C>T p.(=) - - - - 5 Unknown - g.224528C>T - - - SDHA_000017 MSCV_0020850 - - ; clinvar; - - - -
./. 1 - - c.205G>A p.(Ala69Thr) - - - - 5 Unknown - g.224529G>A - - - SDHA_000018 MSCV_0020851 - - ; clinvar; - - - -
./. 1 - - c.219C>G p.(=) - - - - 5 Unknown - g.224543C>G - - - SDHA_000019 MSCV_0020852 - - ; clinvar; - - - -
./. 1 - - c.242C>T p.(Ser81Phe) - - - - 5 Unknown - g.224566C>T - - - SDHA_000020 MSCV_0020853 - - ; clinvar; - - - -
./. 1 - - c.260C>T p.(Thr87Ile) - - - - 5 Unknown - g.224584C>T - - - SDHA_000021 MSCV_0020854 - - ; clinvar; - - - -
./. 1 - - c.269T>C p.(Val90Ala) - - - - 5 Unknown - g.224593T>C - - - SDHA_000022 MSCV_0020855 - - ; clinvar; - - - -
./. 1 - - c.284C>G p.(Pro95Arg) - - - - 5 Unknown - g.224608C>G - - - SDHA_000023 MSCV_0020856 - - ; clinvar; - - - -
./. 1 - - c.287C>T p.(Thr96Ile) - - - - 5 Unknown - g.224611C>T - - - SDHA_000024 MSCV_0020857 - - ; clinvar; - - - -
./. 1 - - c.290G>C p.(Arg97Thr) - - - - 5 Unknown - g.224614G>C - - - SDHA_000025 MSCV_0020858 - - ; clinvar; - - - -
./. 1 - - c.300T>C p.(=) - - - - 5 Unknown - g.224624T>C - - - SDHA_000026 MSCV_0020859 - - ; clinvar; - - - -
./. 1 - - c.309A>G p.(=) - - - - 5 Unknown - g.224633A>G - - - SDHA_000027 MSCV_0020860 - - ; clinvar; - - - -
./. 1 - - c.313-8G>A p.(=) - - - - 5 Unknown - g.225526G>A - - - SDHA_000028 MSCV_0020861 - - ; clinvar; - - - -
./. 1 - - c.313-7T>C p.(=) - - - - 5 Unknown - g.225527T>C - - - SDHA_000029 MSCV_0020862 - - ; clinvar; - - - -
./. 1 - - c.313-5T>G p.? - - - - 5 Unknown - g.225529T>G - - - SDHA_000030 MSCV_0020863 - - ; clinvar; - - - -
./. 1 - - c.313-3C>T p.? - - - - 5 Unknown - g.225531C>T - - - SDHA_000031 MSCV_0020864 - - ; clinvar; - - - -
./. 1 - - c.319A>G p.(Ile107Val) - - - - 5 Unknown - g.225540A>G - - - SDHA_000032 MSCV_0020865 - - ; clinvar; - - - -
./. 1 - - c.323A>G p.(Asn108Ser) - - - - 5 Unknown - g.225544A>G - - - SDHA_000033 MSCV_0020866 - - ; clinvar; - - - -
./. 1 - - c.328G>C p.(Ala110Pro) - - - - 5 Unknown - g.225549G>C - - - SDHA_000034 MSCV_0020867 - - ; clinvar; - - - -
./. 1 - - c.334G>A p.(Gly112Arg) - - - - 5 Unknown - g.225555G>A - - - SDHA_000451 MSCV_0020868 - - ; clinvar; - - - -
./. 1 - - c.336G>C p.(=) - - - - 5 Unknown - g.225557G>C - - - SDHA_000452 MSCV_0020869 - - ; clinvar; - - - -
./. 1 - - c.340A>G p.(Met114Val) - - - - 5 Unknown - g.225561A>G - - - SDHA_000453 MSCV_0020870 - - ; clinvar; - - - -
./. 1 - - c.371A>G p.(Tyr124Cys) - - - - 5 Unknown - g.225592A>G - - - SDHA_000454 MSCV_0020871 - - ; clinvar; - - - -
./. 1 - - c.372C>T p.(=) - - - - 5 Unknown - g.225593C>T - - - SDHA_000455 MSCV_0020872 - - ; clinvar; - - - -
./. 1 - - c.373G>A p.(Asp125Asn) - - - - 5 Unknown - g.225594G>A - - - SDHA_000456 MSCV_0020873 - - ; clinvar; - - - -
./. 1 - - c.377del p.(Val127*) - - - - 5 Unknown - g.225598del - - - SDHA_000457 MSCV_0020874 - - ; clinvar; - - - -
./. 1 - - c.378C>T p.(=) - - - - 5 Unknown - g.225599C>T - - - SDHA_000458 MSCV_0020875 - - ; clinvar; - - - -
./. 1 - - c.379G>A p.(Val127Met) - - - - 5 Unknown - g.225600G>A - - - SDHA_000459 MSCV_0020876 - - ; clinvar; - - - -
./. 1 - - c.389C>G p.(Ser130Cys) - - - - 5 Unknown - g.225610C>G - - - SDHA_000460 MSCV_0020877 - - ; clinvar; - - - -
./. 1 - - c.390C>T p.(=) - - - - 5 Unknown - g.225611C>T - - - SDHA_000461 MSCV_0020878 - - ; clinvar; - - - -
./. 1 - - c.408G>A p.(=) - - - - 5 Unknown - g.225629G>A - - - SDHA_000462 MSCV_0020879 - - ; clinvar; - - - -
./. 1 - - c.411T>A p.(Asp137Glu) - - - - 5 Unknown - g.225632T>A - - - SDHA_000463 MSCV_0020880 - - ; clinvar; - - - -
./. 1 - - c.413C>T p.(Ala138Val) - - - - 5 Unknown - g.225634C>T - - - SDHA_000464 MSCV_0020881 - - ; clinvar; - - - -
./. 1 - - c.419A>G p.(His140Arg) - - - - 5 Unknown - g.225640A>G - - - SDHA_000465 MSCV_0020882 - - ; clinvar; - - - -
./. 1 - - c.423C>T p.(=) - - - - 5 Unknown - g.225644C>T - - - SDHA_000466 MSCV_0020883 - - ; clinvar; - - - -
./. 1 - - c.424A>G p.(Met142Val) - - - - 5 Unknown - g.225645A>G - - - SDHA_000319 MSCV_0020884 - - ; clinvar; - - - -
./. 1 - - c.428C>T p.(Thr143Met) - - - - 5 Unknown - g.225649C>T - - - SDHA_000320 MSCV_0020885 - - ; clinvar; - - - -
./. 1 - - c.429G>A p.(=) - - - - 5 Unknown - g.225650G>A - - - SDHA_000321 MSCV_0020886 - - ; clinvar; - - - -
./. 1 - - c.437C>T p.(Ala146Val) - - - - 5 Unknown - g.225658C>T - - - SDHA_000218 MSCV_0020887 - - ; clinvar; - - - -
./. 1 - - c.441C>T p.(=) - - - - 5 Unknown - g.225662C>T - - - SDHA_000219 MSCV_0020888 - - ; clinvar; - - - -
./. 1 - - c.442G>A p.(Ala148Thr) - - - - 5 Unknown - g.225663G>A - - - SDHA_000220 MSCV_0020889 - - ; clinvar; - - - -
./. 1 - - c.444C>T p.(=) - - - - 5 Unknown - g.225665C>T - - - SDHA_000221 MSCV_0020890 - - ; clinvar; - - - -
./. 1 - - c.446C>T p.(Ala149Val) - - - - 5 Unknown - g.225667C>T - - - SDHA_000222 MSCV_0020891 - - ; clinvar; - - - -
./. 1 - - c.447C>T p.(=) - - - - 5 Unknown - g.225668C>T - - - SDHA_000223 MSCV_0020892 - - ; clinvar; - - - -
./. 1 - - c.451G>A p.(Val151Ile) - - - - 5 Unknown - g.225672G>A - - - SDHA_000224 MSCV_0020893 - - ; clinvar; - - - -
./. 1 - - c.453C>A p.(=) - - - - 5 Unknown - g.225674C>A - - - SDHA_000226 MSCV_0020895 - - ; clinvar; - - - -
./. 1 - - c.453C>G p.(=) - - - - 5 Unknown - g.225674C>G - - - SDHA_000227 MSCV_0020896 - - ; clinvar; - - - -
./. 1 - - c.453C>T p.(=) - - - - 5 Unknown - g.225674C>T - - - SDHA_000225 MSCV_0020894 - - ; clinvar; - - - -
./. 1 - - c.454G>A p.(Glu152Lys) - - - - 5 Unknown - g.225675G>A - - - SDHA_000228 MSCV_0020897 - - ; clinvar; - - - -
./. 1 - - c.456+6G>T p.(=) - - - - 5 Unknown - g.225683G>T - - - SDHA_000229 MSCV_0020898 - - ; clinvar; - - - -
./. 1 - - c.456+9C>T p.(=) - - - - 5 Unknown - g.225686C>T - - - SDHA_000230 MSCV_0020899 - - ; clinvar; - - - -
./. 1 - - c.456+10G>A p.(=) - - - - 5 Unknown - g.225687G>A - - - SDHA_000231 MSCV_0020900 - - ; clinvar; - - - -
./. 1 - - c.457-4A>G p.? - - - - 5 Unknown - g.225994A>G - - - SDHA_000232 MSCV_0020902 - - ; clinvar; - - - -
./. 1 - - c.457-3_457-1del p.? - - - - 5 Unknown - g.225995_225997del - - - SDHA_000233 MSCV_0020901 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium