Transcript #00000012

Transcript name BCS1-like (S. cerevisiae), transcript variant 1
Gene name BCS1L (BC1 (ubiquinol-cytochrome c reductase) synthesis-like)
Chromosome 2
Transcript - NCBI ID NM_004328.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_004319.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

88 entries on 1 page. Showing entries 1 - 88.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-262G>T - r.(=) p.(=) - - - -
./. - - c.-259+1G>A - r.spl? p.? - - - -
./. - - c.-259+1G>T - r.spl? p.? - - - -
./. - - c.-259+2T>G - r.spl? p.? - - - -
./. - - c.-147A>G - r.(=) p.(=) - - - -
./. - - c.-127T>C - r.(=) p.(=) - - - -
./. - - c.-94T>G - r.(=) p.(=) - - - -
./. - - c.-50+155T>A - r.(=) p.(=) - - - -
+?/+? - - c.-50+155T>A - r.? p.? - - - -
./. - - c.-43G>A - r.(=) p.(=) - - - -
./. - - c.-14G>A - r.(=) p.(=) - - - -
./. - - c.53del - r.(?) p.(Ala18Valfs*31) - - - -
+/+ - 3/4 c.103G>C - r.? p.? probably_damaging(0.973) missense_variant - deleterious(0.01)
./. - - c.103G>C - r.(?) p.(Gly35Arg) - - - -
./. - - c.112C>G - r.(?) p.(Leu38Val) - - - -
./. - - c.133C>T - r.(?) p.(Arg45Cys) - - - -
+/+ - 3/4 c.133C>T - r.? p.? probably_damaging(1) missense_variant - deleterious(0)
./. - - c.134G>A - r.(?) p.(Arg45His) - - - -
+/+ - 3/4 c.148A>G - r.? p.? probably_damaging(0.976) missense_variant - tolerated(0.07)
./. - - c.148A>G - r.(?) p.(Thr50Ala) - - - -
./. - - c.166C>T - r.(?) p.(Arg56*) - - - -
+/+ - 3/4 c.166C>T - r.? p.? - stop_gained - -
./. - - c.201C>T - r.(=) p.(=) - - - -
./. - - c.205C>T - r.(?) p.(Arg69Cys) - - - -
./. - - c.217C>T - r.(?) p.(Arg73Cys) - - - -
+/+ - 3/4 c.232A>G - r.? p.? benign(0.364) missense_variant - deleterious(0)
./. - - c.232A>G - r.(?) p.(Ser78Gly) - - - -
./. - - c.245C>A - r.(?) p.(Ser82*) - - - -
./. - - c.253_255del - r.(?) p.(Gln85del) - - - -
./. - - c.258T>C - r.(=) p.(=) - - - -
./. - - c.268C>T - r.(?) p.(Arg90Cys) - - - -
./. - - c.269G>A - r.(?) p.(Arg90His) - - - -
./. - - c.290_292del - r.(?) p.(Val98del) - - - -
+/+ - 3/4 c.296C>T - r.? p.? probably_damaging(1) missense_variant - deleterious(0)
./. - - c.296C>T - r.(?) p.(Pro99Leu) - - - -
+?/+? - - c.320+1G>T - r.spl? p.? - splice_donor_variant - -
./. - - c.320+1G>T - r.spl? p.? - - - -
./. - - c.321-12G>A - r.(=) p.(=) - - - -
./. - - c.349C>T - r.(?) p.(Arg117*) - - - -
./. - - c.371_372insA - r.(?) p.(Asp125Argfs*19) - - - -
./. - - c.413C>T - r.(?) p.(Thr138Met) - - - -
./. - - c.416del - r.(?) p.(Leu140Trpfs*18) - - - -
./. - - c.431G>A - r.(?) p.(Arg144Gln) - - - -
+?/+? - 4/9 c.431G>A - r.? p.? benign(0.427) missense_variant - deleterious(0.02)
./. - - c.460+1G>A - r.spl? p.? - - - -
./. - - c.460+2T>C - r.spl? p.? - - - -
./. - - c.464G>C - r.(?) p.(Arg155Pro) - - - -
+/+ - 5/9 c.464G>C - r.? p.? probably_damaging(0.993) missense_variant - deleterious(0)
./. - - c.472del - r.(?) p.(Ala158Profs*10) - - - -
./. - - c.532del - r.(?) p.(Phe179Leufs*10) - - - -
./. - - c.547C>T - r.(?) p.(Arg183Cys) - - - -
+/+ - 5/9 c.547C>T - r.? p.? probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.548G>A - r.(?) p.(Arg183His) - - - -
+/+ - 5/9 c.548G>A - r.? p.? probably_damaging(0.994) missense_variant - deleterious(0)
./. - - c.550C>T - r.(?) p.(Arg184Cys) - - - -
+/+ - 5/9 c.550C>T - r.? p.? probably_damaging(0.953) missense_variant - deleterious(0.01)
./. - - c.556C>T - r.(?) p.(Arg186*) - - - -
./. - - c.598C>T - r.(?) p.(Arg200*) - - - -
./. - - c.604_612del - r.(?) p.(Arg203_Val205del) - - - -
./. - - c.606_607insA - r.(?) p.(Arg203Lysfs*9) - - - -
./. - - c.628G>A - r.(?) p.(Asp210Asn) - - - -
./. - - c.655+1G>A - r.spl? p.? - - - -
./. - - c.703G>A - r.(?) p.(Gly235Arg) - - - -
./. - - c.768C>G - r.(=) p.(=) - - - -
./. - - c.771del - r.(?) p.(Asp258Thrfs*13) - - - -
./. - - c.818del - r.(?) p.(Pro274Argfs*26) - - - -
./. - - c.822G>A - r.(=) p.(=) - - - -
+/+ - 7/9 c.830G>A - r.? p.? probably_damaging(0.97) missense_variant - deleterious(0)
./. - - c.830G>A - r.(?) p.(Ser277Asn) - - - -
./. - - c.871C>T - r.(?) p.(Arg291*) - - - -
./. - - c.889+1G>A - r.spl? p.? - - - -
./. - - c.889+1G>T - r.spl? p.? - - - -
./. - - c.889+1_889+2insT - r.spl? p.? - - - -
./. - - c.901T>A - r.(?) p.(Tyr301Asn) - - - -
?/? - 8/9 c.901T>A - r.? p.? probably_damaging(0.936) missense_variant - deleterious(0.03)
./. - - c.970_971insC - r.(?) p.(Arg325Profs*11) - - - -
+?/+? - 8/9 c.980T>C - r.? p.? possibly_damaging(0.794) missense_variant - deleterious(0.01)
./. - - c.980T>C - r.(?) p.(Val327Ala) - - - -
./. - - c.996C>T - r.(=) p.(=) - - - -
./. - - c.1006_1007+2del - r.spl? p.? - - - -
./. - - c.1017T>C - r.(=) p.(=) - - - -
./. - - c.1036C>T - r.(?) p.(Arg346*) - - - -
./. - - c.1047_1049del - r.(?) p.(Lys350del) - - - -
+/+ - 9/9 c.1057G>A - r.? p.? possibly_damaging(0.603) missense_variant - deleterious(0.04)
./. - - c.1057G>A - r.(?) p.(Val353Met) - - - -
./. - - c.1127T>A - r.(?) p.(Leu376*) - - - -
./. - - c.1193_1194insCTA - r.(?) p.(Tyr399dup) - - - -
./. - - c.1243_1244del - r.(?) p.(Glu415Valfs*?) - - - -
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