Transcript #00018578 (NM_003002.2, SDHD gene)

Transcript name succinate dehydrogenase complex, subunit D, integral membrane protein
Gene name SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein)
Chromosome 11
Transcript - NCBI ID NM_003002.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002993.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
+?/+? _1_2i c.-25655_169+315del r.? p.? - -
+/+ _1_2i c.-8828_169+442del r.? p.? - -
+/+ _1_2i c.-8828_169+442del r.0? p.0? - -
+/+ _1_2i c.-8828_169+442del r.0? p.0? - -
+/+ _1_2i c.-8828_169+442del r.0? p.0? - -
+/+ _1_2i c.-8828_169+442del r.0? p.0? - -
+/+ _1_2i c.-1427_169+29del r.? p.? - -
?/+ _1_2i c.(?_-61)_(169+1_170-1)del r.? p.? - -
?/+ _1_4_ c.(?_-61)_(*824_?)del r.? p.? - -
?/+ _1_4_ c.(?_-61)_(*824_?)del r.? p.? - -
-?/. - c.-19T>C r.(?) p.(=) - -
?/+ 1 c.1A>G r.(?) p.(Met1?) - -
+/+ 1 c.1A>G r.(?) p.(Met1?) - -
+?/+? 1 c.2T>A r.(?) p.(Met1?) - -
?/. 1 c.2T>C r.(?) p.(Met1?) - -
+/+ 1 c.2_3inv r.(?) p.(Met1?) - -
+/+ 1 c.3G>A r.(?) p.(Met1?) - -
?/+ 1 c.3G>C r.(?) p.(Met1?) - -
+/? 1 c.3G>C r.(?) p.(Met1?) - -
+/+ 1 c.3G>C r.(?) p.0? - -
?/+ 1 c.14G>A r.(?) p.(Trp5*) - -
?/. 1 c.19_35del r.(?) p.(Leu7Cysfs*56) - -
?/+ 1 c.21del r.(?) p.(Ser8Valfs*7) - -
?/+ 1 c.28_33delinsTAGGAGGCCCTA r.(?) p.(Val10*) - -
?/+ 1 c.33C>A r.(?) p.(Cys11*) - -
+/. - c.33C>A r.(?) p.(Cys11*) - -
-/- 1 c.33C>T r.(?) p.(=) - -
?/- 1 c.34G>A r.(?) p.(Gly12Ser) - -
-/. - c.34G>A r.(?) p.(Gly12Ser) - -
-/. - c.34G>A r.(?) p.(Gly12Ser) - -
?/. - c.34G>A r.(?) p.(Gly12Ser) - -
-?/. - c.34G>A r.(?) p.(Gly12Ser) - -
-?/. - c.34G>A r.(?) p.(Gly12Ser) - -
-?/. - c.34G>A r.(?) p.(Gly12Ser) - -
?/+ 1 c.36_37del r.(?) p.(Ala13Profs*55) - -
?/+ 1 c.49C>T r.(?) p.(Arg17*) - -
+/+ 1 c.49C>T r.(?) p.(Arg17*) - -
?/-? 1 c.50G>T r.(?) p.(Arg17Leu) - -
?/+? 1i c.52+2T>G r.spl p.? - -
+/+ 1i_2i c.52+5_169+325delins235 r.? p.? - -
?/. 1i c.53-52_53-49del r.(?) p.(=) - -
+?/+? 1i c.53-2A>G r.spl p.? - -
+/+? 1i c.53-2A>G r.spl p.? - -
-?/. - c.53C>T r.(?) p.(Ala18Val) - -
-?/. - c.53C>T r.(?) p.(Ala18Val) - -
-?/. - c.53C>T r.(?) p.(Ala18Val) - -
?/+ 1 c.55_56dup r.(?) p.(Leu20Cysfs*67) - -
?/+ 1 c.57del r.(?) p.(Leu20Cysfs*66) - -
?/+ 2 c.64C>T r.(?) p.(Arg22*) - -
?/- 2 c.90T>C r.(?) p.(=) - -
?/+ 2 c.94_95del r.(?) p.(Ala33Ilefs*35) - -
?/+ 2 c.95C>A r.(?) p.(Ser32*) - -
?/+ 2 c.106C>T r.(?) p.(Gln36*) - -
?/+ 2 c.112C>T r.(?) p.(Arg38*) - -
+/+ 2 c.112C>T r.(?) p.(Arg38*) - -
?/. 2 c.116del r.(?) p.(Pro39Leufs*47) - -
+?/-? 2 c.118A>G r.(?) p.(Ile40Val) - -
?/. 2 c.119_125del r.(?) p.(Ile40Asnfs*44) - -
?/+ 2 c.120_127del r.(?) p.(Ile40Metfs*26) - -
?/+ 2 c.122dup r.(?) p.(Glu42Argfs*27) - -
?/- 2 c.125A>C r.(?) p.(Glu42Ala) - -
?/+ 2 c.129G>A r.(?) p.(Trp43*) - -
?/- 2 c.138G>A r.(?) p.(=) - -
?/. 2 c.139C>T r.(?) p.(Gln47*) - -
?/+ 2 c.147dup r.(?) p.(His50Thrfs*19) - -
?/- 2 c.149A>G r.(?) p.(His50Arg) - -
-?/. - c.149A>G r.(?) p.(His50Arg) - -
-/. - c.149A>G r.(?) p.(His50Arg) - -
-?/. - c.149A>G r.(?) p.(His50Arg) - -
?/. - c.149A>G r.(?) p.(His50Arg) - -
+/. 2 c.149A>G r.(?) p.(His50Arg) - -
?/+ 2 c.149dup r.(?) p.(His50Glnfs*19) - -
?/? 2 c.149dup r.(?) p.(His50Glnfs*19) - -
?/. 2 c.149dup r.(?) p.(His50Glnfs*19) - -
?/. 2 c.158C>T r.(?) p.(Pro53Leu) - -
?/. - c.158C>T r.(?) p.(Pro53Leu) - -
?/. 2 c.166del r.(?) p.(His56Ilefs*30) - -
?/+ 2 c.168_169del r.(?) p.(Ser57Trpfs*11) - -
?/+? 2_2i c.169_169+9del r.spl p.? - -
+?/+? 2_2i c.169_169+9del r.spl p.? - -
+?/+? 2_2i c.169_169+9del r.spl p.? - -
+?/+? 2_2i c.169_169+9del r.spl p.? - -
+/+? 2i c.169+1G>A r.spl p.? - -
+/. - c.169+1G>A r.spl? p.? - -
?/+? 2i c.169+1G>T r.spl p.? - -
?/+ 2i c.169+5G>A r.spl? p.? - -
?/- 2i c.169+67C>T r.(?) p.(=) - -
-/- 2i c.170-29A>G r.(?) p.(=) - -
?/. 2i c.170-2A>T r.spl p.? - -
?/+ 2i c.170-1G>T r.spl p.? - -
+?/+ 1i_3i c.(169+1_170-1)_(314+1_315-1)del r.? p.? - -
?/+ 1i_3i c.(169+1_170-1)_(314+1_315-1)del r.? p.? - -
?/+ 1i_4_ c.(169+1_170-1)_(*824_?)del r.? p.? - -
?/. - c.180G>A r.(?) p.(Lys60=) - -
?/+ 3 c.181del r.(?) p.(Ala61Leufs*25) - -
+/+ 3 c.184_185insTC r.(?) p.(Ala62Valfs*25) - -
+/+ 3 c.188_198del r.(?) p.(Ser63Tyrfs*2) - -
?/+ 3 c.191_192del r.(?) p.(Leu64Profs*4) - -
?/+ 3 c.202dup r.(?) p.(Ser68Lysfs*46) - -
?/- 3 c.204C>T r.(?) p.(=) - -
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