Transcript #00001116

Transcript name transcript variant X1
Gene name SDHA (succinate dehydrogenase complex, subunit A, flavoprotein (Fp))
Chromosome 5
Transcript - NCBI ID XM_005248329.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005248386.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

494 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-115T>C p.(=) - - - -
./. - - c.-90_-89insC p.(=) - - - -
./. - - c.-63G>A p.(=) - - - -
./. - - c.-7A>C p.(=) - - - -
./. - - c.-4A>G p.(=) - - - -
./. - - c.-1C>T p.(=) - - - -
+/+ - 1/14 c.1A>C p.? benign(0.067) initiator_codon_variant - tolerated(0.14)
./. - - c.1A>C p.? - - - -
./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02)
./. - - c.1A>G p.? - - - -
./. - - c.2T>C p.? - - - -
./. - - c.2T>G p.? - - - -
./. - - c.5C>T p.(Ser2Leu) - - - -
./. - - c.12C>T p.(=) - - - -
./. - - c.13C>T p.(Arg5Trp) - - - -
./. - - c.17G>A p.(Gly6Asp) - - - -
./. - - c.18C>A p.(=) - - - -
./. - - c.23C>G p.(Ser8Trp) - - - -
./. - - c.24G>C p.(=) - - - -
./. - - c.25C>G p.(Arg9Gly) - - - -
./. - - c.40C>A p.(=) - - - -
./. - - c.44G>C p.(Arg15Pro) - - - -
./. - - c.45C>T p.(=) - - - -
./. - - c.57C>G p.(=) - - - -
./. - - c.61G>A p.(Ala21Thr) - - - -
./. - - c.63+8C>T p.(=) - - - -
./. - - c.64-10G>A p.(=) - - - -
./. - - c.64-3C>T p.? - - - -
./. - - c.86G>A p.(Gly29Glu) - - - -
./. - - c.91C>T p.(Arg31*) - - - -
./. - - c.92G>A p.(Arg31Gln) - - - -
./. - - c.106A>G p.(Thr36Ala) - - - -
./. - - c.109G>A p.(Val37Ile) - - - -
./. - - c.112G>C p.(Asp38His) - - - -
./. - - c.113A>T p.(Asp38Val) - - - -
./. - - c.123G>A p.(=) - - - -
./. - - c.125G>A p.(Arg42Lys) - - - -
./. - - c.133G>A p.(Ala45Thr) - - - -
./. - - c.136A>G p.(Lys46Glu) - - - -
./. - - c.146A>G p.(Asp49Gly) - - - -
./. - - c.150C>T p.(=) - - - -
./. - - c.150+6T>G p.(=) - - - -
./. - - c.150+9A>G p.(=) - - - -
./. - - c.154T>A p.(Ser52Thr) - - - -
./. - - c.155C>T p.(Ser52Phe) - - - -
./. - - c.162G>A p.(=) - - - -
./. - - c.163T>C p.(Tyr55His) - - - -
./. - - c.169G>T p.(Val57Leu) - - - -
./. - - c.188A>T p.(Asp63Val) - - - -
./. - - c.204C>T p.(=) - - - -
./. - - c.205G>A p.(Ala69Thr) - - - -
./. - - c.219C>G p.(=) - - - -
./. - - c.242C>T p.(Ser81Phe) - - - -
./. - - c.260C>T p.(Thr87Ile) - - - -
./. - - c.269T>C p.(Val90Ala) - - - -
./. - - c.284C>G p.(Pro95Arg) - - - -
./. - - c.287C>T p.(Thr96Ile) - - - -
./. - - c.290G>C p.(Arg97Thr) - - - -
./. - - c.300T>C p.(=) - - - -
./. - - c.309A>G p.(=) - - - -
./. - - c.313-8G>A p.(=) - - - -
./. - - c.313-7T>C p.(=) - - - -
./. - - c.313-5T>G p.? - - - -
./. - - c.313-3C>T p.? - - - -
./. - - c.319A>G p.(Ile107Val) - - - -
./. - - c.323A>G p.(Asn108Ser) - - - -
./. - - c.328G>C p.(Ala110Pro) - - - -
./. - - c.334G>A p.(Gly112Arg) - - - -
./. - - c.336G>C p.(=) - - - -
./. - - c.340A>G p.(Met114Val) - - - -
./. - - c.371A>G p.(Tyr124Cys) - - - -
./. - - c.372C>T p.(=) - - - -
./. - - c.373G>A p.(Asp125Asn) - - - -
./. - - c.377del p.(Val127*) - - - -
./. - - c.378C>T p.(=) - - - -
./. - - c.379G>A p.(Val127Met) - - - -
./. - - c.389C>G p.(Ser130Cys) - - - -
./. - - c.390C>T p.(=) - - - -
./. - - c.408G>A p.(=) - - - -
./. - - c.411T>A p.(Asp137Glu) - - - -
./. - - c.413C>T p.(Ala138Val) - - - -
./. - - c.419A>G p.(His140Arg) - - - -
./. - - c.423C>T p.(=) - - - -
./. - - c.424A>G p.(Met142Val) - - - -
./. - - c.428C>T p.(Thr143Met) - - - -
./. - - c.429G>A p.(=) - - - -
./. - - c.437C>T p.(Ala146Val) - - - -
./. - - c.441C>T p.(=) - - - -
./. - - c.442G>A p.(Ala148Thr) - - - -
./. - - c.444C>T p.(=) - - - -
./. - - c.446C>T p.(Ala149Val) - - - -
./. - - c.447C>T p.(=) - - - -
./. - - c.451G>A p.(Val151Ile) - - - -
./. - - c.453C>A p.(=) - - - -
./. - - c.453C>G p.(=) - - - -
./. - - c.453C>T p.(=) - - - -
./. - - c.454G>A p.(Glu152Lys) - - - -
./. - - c.456+6G>T p.(=) - - - -
./. - - c.456+9C>T p.(=) - - - -
./. - - c.456+10G>A p.(=) - - - -
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