Transcript #00018570

Transcript name succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
Gene name SDHA (succinate dehydrogenase complex, subunit A, flavoprotein (Fp))
Chromosome 5
Transcript - NCBI ID NM_004168.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004159.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

228 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
-/. - c.-115T>C benign r.(?) p.(=) - -
-?/. - c.-80C>T likely benign r.(?) p.(=) - -
-?/. - c.-27C>G likely benign r.(?) p.(=) - -
-?/. - c.-7A>C likely benign r.(?) p.(=) - -
-?/. - c.-7A>C likely benign r.(?) p.(=) - -
-/. - c.-4A>G benign r.(?) p.(=) - -
?/? 1 c.1A>C - r.? p.? 0 -
-?/. - c.10G>A likely benign r.(?) p.(Val4Ile) - -
-?/. - c.17G>A likely benign r.(?) p.(Gly6Asp) - -
-?/. - c.17G>A likely benign r.(?) p.(Gly6Asp) - -
+/. - c.64-2A>G pathogenic r.spl? p.? - -
+/? 1i c.64-2A>G - r.[64_73del, r.63_64ins64-54_64-1;64-2a>g] p.(=) - -
+/. - c.91C>T Pathogenic r.(?) p.(Arg31*) - nonsense
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - nonsense
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - -
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - -
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - -
+?/+? 2 c.91C>T - r.(?) p.(Arg31*) - -
+?/+? 2 c.91C>T - r.(?) p.(Arg31*) 0 -
?/? 2 c.91C>T - r.91c>u p.(Arg31*) - -
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - -
+?/. 2 c.91C>T - r.(?) p.(Arg31*) - -
+?/+? 2 c.91C>T - r.(?) p.(Arg31*) - -
-?/. - c.92G>A likely benign r.(?) p.(Arg31Gln) - -
-/. - c.113A>T benign r.(?) p.(Asp38Val) - -
-/- 2 c.113A>T - r.(?) p.(Asp38Val) - -
-/. - c.113A>T benign r.(?) p.(Asp38Val) - -
-?/. - c.113A>T likely benign r.(?) p.(Asp38Val) - -
?/. 2 c.117del - r.(?) p.(Asn40Thrfs*18) - -
-?/. - c.133G>A likely benign r.(?) p.(Ala45Thr) - -
?/. 2 c.136A>G - r.(?) p.(Lys46Glu) - -
+?/. - c.150+1G>A likely pathogenic r.spl? p.? - -
?/. - c.163T>C VUS r.(?) p.(Tyr55His) - -
?/. 3 c.221dup - r.(?) p.(Leu74Phefs*9) - -
?/. 3 c.223C>T - r.(?) p.(Arg75*) - -
?/. - c.224G>A VUS r.(?) p.(Arg75Gln) - -
?/? 3 c.248C>T - r.(?) p.(Ala83Val) 0 -
+/? 3 c.248C>T - r.247_312del p.(Ala83Val) - -
+?/+? 3 c.295C>T - r.(?) p.(His99Tyr) - -
+?/. - c.304G>A likely pathogenic r.(?) p.(Ala102Thr) - -
+?/. - c.305C>T likely pathogenic r.(?) p.(Ala102Val) - -
-/. - c.309A>G benign r.(?) p.(=) - -
-/. - c.312+20C>T benign r.(=) p.(=) - -
-?/. - c.313-19G>T likely benign r.(=) p.(=) - -
-?/. - c.313-19G>T likely benign r.(=) p.(=) - -
-?/. - c.313-19G>T likely benign r.(=) p.(=) - -
-/. - c.313-16T>G benign r.(=) p.(=) - -
?/? 4 c.356G>A - r.(?) p.(Trp119*) - -
+/? 4 c.356G>A - r.(?) p.(Trp119*) 0.16 -
?/. 4 c.394T>C - r.(?) p.(Trp132Arg) - -
-?/. - c.456+6G>T likely benign r.(=) p.(=) - -
-?/. - c.456+20G>C likely benign r.(=) p.(=) - -
-/. - c.456+20G>C benign r.(=) p.(=) - -
-/. - c.456+20G>C benign r.(=) p.(=) - -
?/. 4i_5 c.457-2_457del - r.spl? p.? - -
?/. 5 c.484A>T - r.(?) p.(Arg162*) - -
+?/+? 5 c.511C>T - r.(?) p.(Arg171Cys) - -
?/. 5 c.511C>T - r.(?) p.(Arg171Cys) - -
-/. - c.549C>T benign r.(?) p.(=) - -
-/. - c.549C>T benign r.(?) p.(=) - -
?/. 5 c.549C>T - r.(=) p.(=) - -
-/. - c.549C>T benign r.(?) p.(=) - -
-/. - c.550G>A benign r.(?) p.(Gly184Arg) - -
-/. - c.550G>A benign r.(?) p.(Gly184Arg) - -
?/. - c.550G>A VUS r.(?) p.(Gly184Arg) - -
?/. 5 c.562C>T - r.(?) p.(Arg188Trp) - -
+/? 5 c.565T>G - r.565u>g p.(Cys189Gly) - -
-/. - c.619A>C benign r.(?) p.(=) - -
-/. - c.621+60T>C benign r.(=) p.(=) - -
-?/. - c.622-31C>T likely benign r.(=) p.(=) - -
-/. - c.622-13del benign r.(=) p.(=) - -
-?/. - c.622-13del likely benign r.(=) p.(=) - -
-?/. - c.622-8T>C likely benign r.(=) p.(=) - -
-?/. - c.622-7C>T likely benign r.(=) p.(=) - -
?/. 6 c.629G>A - r.(?) p.(Arg210Gln) - -
?/. - c.679G>A VUS r.(?) p.(Glu227Lys) - -
-/. - c.684T>C benign r.(?) p.(=) - -
?/. - c.692G>T VUS r.(?) p.(Cys231Phe) - -
-?/. - c.723C>T likely benign r.(?) p.(=) - -
-?/. - c.723C>T likely benign r.(?) p.(=) - -
-?/. - c.723C>T likely benign r.(?) p.(=) - -
-?/. - c.723C>T likely benign r.(?) p.(=) - -
?/. 6 c.724_735del - r.(?) p.(Gly242_His245del) - -
?/. - c.739A>G VUS r.(?) p.(Ile247Val) - -
?/. 6 c.767C>T - r.(?) p.(Thr256Ile) - -
-?/. - c.770+19_770+23del likely benign r.(=) p.(=) - -
-/. - c.771-11A>G benign r.(=) p.(=) - -
-/. - c.771-11A>G benign r.(=) p.(=) - -
-?/. - c.801G>A likely benign r.(?) p.(=) - -
?/. - c.806C>T VUS r.(?) p.(Ala269Val) - -
?/. 7 c.818C>T - r.(?) p.(Thr273Ile) - -
-/. - c.822C>T benign r.(?) p.(=) - -
?/. 7 c.822C>T - r.(=) p.(=) - -
-/. - c.822C>T benign r.(?) p.(=) - -
?/. - c.889C>T VUS r.(?) p.(Pro297Ser) - -
-/. - c.891T>C benign r.(?) p.(=) - -
-/. - c.891T>C benign r.(?) p.(=) - -
-/. - c.896-20A>G benign r.(=) p.(=) - -
?/. 8 c.923C>T - r.(?) p.(Thr308Met) - -
-?/. - c.955A>C likely benign r.(?) p.(Ile319Leu) - -
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