Transcript #00018577 (NM_003001.3, SDHC gene)

Transcript name transcript variant 1
Gene name SDHC (succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa)
Chromosome 1
Transcript - NCBI ID NM_003001.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002992.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

113 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
+/. - c.-4559G>A r.(?) p.(=) - -
-/. - c.-4524G>A r.(?) p.(=) - -
-?/. - c.-4485_-4480dup r.(?) p.(=) - -
?/. 1 c.-118_-117del r.(=) p.(=) - -
-/. - c.-38G>A r.(?) p.(=) - -
?/+ _1 c.(?_-30)_(20+1_21-1)del r.spl? p.? - -
?/- 1 c.-12C>T 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>A r.(?) p.(Met1?) - -
?/+ 1 c.3G>A r.(?) p.(Met1?) - -
?/. 1 c.6del r.(?) p.(Ala3Argfs*4) - -
+?/+? - c.6del r.(?) p.(Ala3Argfs*4) - -
?/. 1 c.8C>T r.(?) p.(Ala3Val) 0.03 missense
-?/. - c.8C>T r.(?) p.(Ala3Val) - -
?/. 1i_3i c(.20+1_21-1)_(179+1_180-1)del r.(?) p.(Arg7_Tyr59del) - -
?/+? 1i c.20+2T>G r.spl? p.? - -
-/. - c.20+11_20+12dup r.(=) p.(=) - -
?/- 1i c.20+11_20+12dup r.(=) p.(=) - -
-/- 1i c.20+13_20+14insTG r.(=) p.(=) - -
-/. - c.20+82T>C r.(=) p.(=) - -
?/-? 1i c.20+82T>C r.(=) p.(=) - -
?/-? 1i c.21-96C>T r.(=) p.(=) - -
?/+? 1i c.21-2A>C r.spl? p.(=) - -
+/+ 2 c.23dup r.(?) p.(His8Glnfs*12) - -
?/. - c.31C>T r.(?) p.(Arg11Cys) - -
?/+ 2 c.39C>A r.(?) p.(Cys13*) - -
+?/+ 2 c.43C>T r.(?) p.(Arg15*) - -
?/+ 2 c.43C>T r.(?) p.(Arg15*) - -
?/. 2 c.49del r.(?) p.(His17Thrfs*30) - -
?/. 2 c.68del r.(?) p.(Cys23Leufs*24) - -
?/. 2i c.77+2dup r.spl? p.(=) - -
-?/. - c.77+3A>G r.spl? p.? - -
-/-? 2i c.77+36T>A r.(=) p.(=) - -
-?/. - c.78-19C>T r.(=) p.(=) - -
?/+ 2i c.78-2A>G r.spl? p.(=) - -
?/. 2i_3i c.(77+1_78-1)_(179+1_180-1)del r.(?) p.(Ala27_Ser60del) - -
?/+ 1i_2i c.(220+1_221-1)_(77+1_78-1)del r.? p.? - -
-?/. - c.120G>A r.(?) p.(Arg40=) - -
?/+ 3 c.126G>A r.(?) p.(Trp42*) - -
+/? 3 c.128A>G r.(?) p.(Asn43Ser) - -
?/. 3 c.148C>T r.(?) p.(Arg50Cys) - -
+/? 3 c.148C>T r.(?) p.(Arg50Cys) 0.00 -
?/. 3 c.154_155del r.(?) p.(Leu52Valfs*45) - -
?/? 3 c.166A>T r.(?) p.(Ile56Phe) - -
+/? 3 c.173T>C r.(?) p.(Ile58Thr) - -
+?/. - c.179G>T r.(?) p.(Ser60Ile) - -
?/+ 3i_6 c.(179+1_180-1)_(*2318_?)del r.spl? p.? - -
+?/+ 4 c.183G>A r.(?) p.(Trp61*) - -
?/-? 4 c.197C>T r.(?) p.(Ala66Val) - -
?/. - c.202T>C r.(?) p.(Ser68Pro) - -
?/. - c.202T>C r.(?) p.(Ser68Pro) - -
+/? 4 c.210C>G r.(?) p.(Cys70Trp) - -
?/. 4 c.214C>G r.(?) p.(Arg72Gly) - -
?/+? 4 c.214C>T r.(?) p.(Arg72Cys) 0.00 -
?/+? 4 c.214C>T r.(?) p.(Arg72Cys) - -
?/+? 4 c.215G>A r.(?) p.(Arg72His) - -
+/+ 4 c.218_219insA r.(?) p.(Thr74Hisfs*24) - -
+?/+? 4 c.224G>A r.(?) p.(Gly75Asp) - -
+/+? 4 c.224G>A r.(?) p.(Gly75Asp) - -
?/-? 4 c.241G>C r.(?) p.(Gly81Arg) - -
?/-? 4i c.241+74C>T r.(=) p.(=) - -
+/+ 4i_6 c.242-241_*1978del r.spl? p.? - -
?/. 4i c.242-22A>G r.(=) p.(=) - -
?/+ 4i_5i c.(241+1_242-1)_(405+1_406-1)del r.spl? p.? - -
-?/-? 5 c.244G>T r.(?) p.(Val82Phe) - -
+?/? 5 c.253_255dup r.(?) p.(Phe85dup) - -
?/? 5 c.253_255dup r.(?) p.(Phe85dup) - -
-/. - c.273A>G r.(?) p.(Leu91=) - -
-?/. - c.295T>A r.(?) p.(Tyr99Asn) - -
-?/. - c.306T>C r.(?) p.(Leu102=) - -
-?/. - c.307G>C r.(?) p.(Val103Leu) - -
?/. 5 c.328C>T r.(?) p.(Pro110Ser) 0.53 -
-/. - c.354T>C r.(?) p.(Phe118=) - -
-?/. - c.360T>C r.(?) p.(Leu120=) - -
?/. 5 c.379C>T r.(?) p.(His127Tyr) Deleterious -
?/. 5 c.379C>T r.(?) p.(His127Tyr) - -
?/. 5 c.380A>G r.(?) p.(His127Arg) 0.00 -
+/. - c.397C>T r.(?) p.(Arg133*) - -
+/. 5 c.397C>T r.(?) p.(Arg133*) - -
?/+ 5 c.397C>T r.(?) p.(Arg133*) - -
?/+ 5 c.397C>T r.(?) p.(Arg133*) - -
+?/+? - c.405+1G>A r.spl? p.? - -
?/+? 5i c.405+1G>A r.spl? p.(=) - -
?/. 5i c.405+1G>C r.spl? p.(=) - -
+/. - c.405+1G>T r.spl? p.? - -
?/+? 5i c.405+1G>T r.spl? p.(=) - -
-?/. - c.405+12C>T r.(=) p.(=) - -
-?/. - c.405+13G>A r.(=) p.(=) - -
?/. 5i c.405+23C>T r.(=) p.(=) - -
?/? 5i c.405+25T>C r.(=) p.(=) - -
?/-? 5i c.405+84G>C r.(=) p.(=) - -
?/+ 5i_6 c.406-550_*2318delins4? r.(?) p.? - -
-/. - c.406-15_406-14del r.(=) p.(=) - -
-?/. - c.406-14_406-13del r.(=) p.(=) - -
-/. - c.406-13G>T r.(=) p.(=) - -
-/. - c.406-12C>T r.(=) p.(=) - -
-?/. - c.406-8G>T r.(=) p.(=) - -
-?/. - c.406-6C>T r.(=) p.(=) - -
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