Transcript #00018576 (NM_003000.2, SDHB gene)

Transcript name succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
Gene name SDHB (succinate dehydrogenase complex, subunit B, iron sulfur (Ip))
Chromosome 1
Transcript - NCBI ID NM_003000.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002991.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

691 entries on 7 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
+?/+? 1 c.-54121_73-4014del r.0? p.0? - -
+?/+ 1 c.-16418_73-5173del r.? p.? - -
+?/+? 1 c.-16416_72+3877del r.? p.? - deletion, large
+?/+? 1 c.-10413_73-3866del r.? p.? - deletion, large
+?/+? 1 c.-10413_73-3866del r.? p.? - deletion, large
+?/+? 1 c.-8570_201-1396del r.(=) p.(=) - -
+?/+? 1 c.-2651_(72+1_73-1)del r.? p.? - deletion, large
+?/+? 1 c.-2651_(72+1_73-1)dup r.? p.? - duplication, large
+?/+? 1 c.-516_72+333del r.? p.? - -
?/-? 1 c.-198G>A r.(=) p.(=) - -
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? 0 deletion, large
+/+ 1_2i c.(?_-151)_(200+1_201-1)del r.spl? p.? 0 -
+/. 1_2i c.(?_-151)_(200+1_201-1)del r.? p.? - -
+?/+? - c.(?_-151)_(286+1_287-1)del r.(?) p.? - deletion, large
+?/+? 1_7i c.(?_-151)_(765+1_766-1)del r.? p.? - deletion, large
+?/+? 1_8 c.(?_-151)_(*159_?)del r.? p.? - deletion, large
+/+ 1_8 c.(?_-151)_(*159_?)del r.? p.? 0 -
+/+ 1_8 c.(?_-151)_(*159_?)del r.? p.? - -
-/. - c.-139G>T r.(?) p.(=) - -
-/-? 1 c.-139G>T r.(=) p.(=) - -
-/-? 1 c.-139G>T r.(=) p.(=) - -
?/? 1 c.-70C>T r.(?) p.(?) - -
?/? 1 c.-55C>T r.(?) p.(?) - -
-?/. - c.-33G>T r.(?) p.(=) - -
?/? 1 c.-31T>G r.(?) p.(?) - -
-?/-? _1 c.-19del r.(?) p.(?) - -
?/? 1 c.-6G>A r.(=) p.(=) - -
+/+ 3i_8_ c.(286+1_287-1)_*159{0} r.? p.? - deletion, large
+/+ 1i_8_ c.(72+1_73-1)_*159{0} r.? p.0? - deletion, large
+/+ _1_8_ c.-151_(*159{0} r.0? p.0? - deletion, large
+/+ _1_2i c.-151_(200+1_201-1){0} r.0? p.0? - deletion, large
+/+ _1_1i c.-151_(72+1_73-1){0} r.0? p.0? - deletion, large
+/+ _1_7i c.-151_(765+1_766-1){0} r.0? p.0? - deletion, large
?/? _1_8_ c.-151_*159{2} r.? p.? - duplication, large
+?/+? 1 c.3G>A r.(?) p.(Met1?) - -
+/+ 1 c.3G>A r.(?) p.(Met1?) - nonsense
+?/+? 1 c.3G>C r.(?) p.(Met1?) - -
?/-? 1 c.8C>G r.(?) p.(Ala3Gly) - -
?/-? 1 c.8C>G r.(?) p.(Ala3Gly) 0 -
+?/+? 1 c.8_59del r.(?) p.(Ala3Glyfs*57) - frameshift
+?/+? 1 c.8_59del r.(?) p.(Ala3Glufs*57) - frameshift
-?/-? 1 c.14T>G r.(?) p.(Val5Gly) - missense
+/+ 1 c.15dup r.(?) p.(Ala6Argfs*57) - frameshift
+/+ 1 c.17_35del r.(?) p.(Ala6Glyfs*65) - frameshift
+/+ 1 c.17_35del r.(?) p.(Ala6Glyfs*65) 0 frameshift
+/+ 1 c.17_35del r.(?) p.(Ala6Glyfs*65) 0 frameshift
+/+ 1 c.17_42dup r.(?) p.(Ala15Profs*4) - frameshift
?/. 1 c.17_42dup r.(?) p.(Ala15Profs*4) - frameshift
-/. - c.18C>A r.(?) p.(Ala6=) - -
?/-? 1 c.18C>A r.(=) p.(=) 0 -
-/. - c.18C>A r.(?) p.(Ala6=) - -
-/. - c.18C>A r.(?) p.(Ala6=) - -
-/. - c.18C>A r.(?) p.(Ala6=) - -
-/. - c.18C>A r.(?) p.(Ala6=) - -
+?/+? - c.19_42dup r.(?) p.(Leu7_Pro14dup) - duplication
+/+ 1 c.20_22delinsC r.(?) p.(Leu7Profs*55) 0 -
-?/-? 1 c.21C>T r.(=) p.(Leu7=) - silent
-/. - c.21C>T r.(?) p.(Leu7=) - -
-/. - c.21C>T r.(?) p.(Leu7=) - -
?/-? 1 c.21C>T r.(=) p.(=) 0 -
+?/+ - c.21del r.(?) p.(Ser8Profs*2) - -
+?/+? 1 c.21del r.(?) p.(Ser8Profs*2) 0 frameshift
?/? 1 c.23C>T r.(?) p.(Ser8Phe) - -
-/- 1 c.24C>T r.(=) p.(Ser8=) - silent
-/. - c.24C>T r.(?) p.(Ser8=) - -
-/. - c.24C>T r.(?) p.(Ser8=) - -
-?/. - c.24C>T r.(?) p.(Ser8=) - -
-/. - c.24C>T r.(=) p.(=) - -
?/- 1 c.24C>T r.(=) p.(=) - -
-?/. - c.24C>T r.(?) p.(Ser8=) - -
-?/-? 1 c.32G>A r.(?) p.(Arg11His) - missense
?/? 1 c.32G>A r.(?) p.(Arg11His) 0 -
-?/. - c.32G>A r.(?) p.(Arg11His) - -
+?/+? - c.36del r.(?) p.(Leu13Cysfs*64) - frameshift
+?/+? 1 c.41C>T r.(?) p.(Pro14Leu) - missense
?/+ 1 c.44_45dup r.(?) p.(Thr16Profs*62) 0 -
?/-? 1 c.49A>G r.(?) p.(Thr17Ala) 0 -
+/+ 1 c.49del r.(?) p.(Thr17Profs*60) 0 -
?/? 1 c.52C>T r.(?) p.(Leu18Phe) - missense
-?/. - c.65G>C r.(?) p.(Cys22Ser) - -
-/- 1 c.65G>C r.(?) p.(Cys22Ser) - -
-?/-? 1 c.65G>T r.(?) p.(Cys22Leu) - missense
+?/+? 1 c.70C>T r.(?) p.(Gln24Ter) - nonsense
+?/+? 1 c.70C>T r.(?) p.(Gln24*) - nonsense
+?/+? 1i c.72+1G>A r.spl? p.(?) - splicing affected
+?/+? 1i c.72+1G>A r.spl? p.(=) 0 splicing affected?
+?/+? 1i c.72+1G>C r.spl? p.? - -
+?/+? 1i c.72+1G>T r.spl? p.(?) - splicing affected
+?/+? 1i c.72+1G>T r.spl? p.(=) - splicing affected?
+?/+? 1i c.72+1G>T r.spl? p.(=) - -
+?/+? 1i c.72+2_72+6del r.(spl?) p.(?) - splicing affected?
?/-? 1i c.73-111G>A r.(=) p.(=) - -
?/? 1i c.73-65G>T r.(?) p.(?) - -
?/-? 1i c.73-29del r.(=) p.(=) - -
+/+ 1i c.73-22T>A r.spl? p.(?) - splicing affected
?/- 1i c.73-9A>G r.spl? p.(=) - -
+/. - c.73-8A>G r.(=) p.(=) - -
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »