Transcript #00024228 (NM_000248.3, MITF gene)

Transcript name transcript variant 4
Gene name MITF (microphthalmia-associated transcription factor)
Chromosome 3
Transcript - NCBI ID NM_000248.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000239.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

89 entries on 1 page. Showing entries 1 - 89.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-197088T>C r.(?) p.(=)
?/. - c.-172854G>C r.(?) p.(=)
-?/. - c.-172814C>T r.(?) p.(=)
-?/. - c.-172806T>C r.(?) p.(=)
-/. - c.-172806T>C r.(?) p.(=)
-?/. - c.-172796G>A r.(?) p.(=)
-?/. - c.-70402C>T r.(?) p.(=)
?/. - c.-57587G>T r.(?) p.(=)
?/. - c.-57576C>T r.(?) p.(=)
?/. - c.-57375C>T r.(?) p.(=)
?/. - c.-57365C>T r.(?) p.(=)
-/. - c.-57364G>A r.(?) p.(=)
-?/. - c.-57349A>G r.(?) p.(=)
+?/? - c.?_(-70453_?)dup r.? p.?
+/+ - c.?_(988_?)del r.? p.?
+/+ - c.?_(988_?)del r.0? p.0?
-?/? 1M c.20A>G r.(?) p.(Tyr7Cys)
+?/? 1M c.28T>A r.(?) p.(Tyr10Asn)
+/+ 1Mi c.33+1G>A r.spl p.?
+/+ 1Mi c.33+1G>A r.spl p.?
+?/+? 1Mi c.33+5G>C r.spl? p.?
-?/. - c.33+6_33+12del r.(?) p.(=)
-?/. - c.45C>T r.(?) p.(His15=)
-/. - c.45C>T r.(?) p.(His15=)
+/. - c.62dup r.(?) p.(Tyr22ValfsTer22)
?/. - c.131A>C r.(?) p.(His44Pro)
-?/. - c.154C>T r.(?) p.(Pro52Ser)
-?/. - c.198G>A r.(?) p.(Pro66=)
-/. - c.261+22_261+26dup r.(=) p.(=)
-?/. - c.318C>T r.(?) p.(Asn106=)
+?/. - c.323dup r.(?) p.(His108Glnfs*11)
+/. - c.328C>T r.(?) p.(Arg110Ter)
?/. - c.332C>T r.(?) p.(Ala111Val)
-?/. - c.345+8A>G r.(=) p.(=)
-?/. - c.345+15G>C r.(=) p.(=)
-?/. - c.345+22T>C r.(=) p.(=)
+/. - c.442-2A>G r.spl? p.?
-?/. - c.450C>A r.(?) p.(Val150=)
?/. - c.473A>G r.(?) p.(Tyr158Cys)
-?/. - c.515A>G r.(?) p.(Asn172Ser)
-?/. - c.559+9C>G r.(=) p.(=)
-?/. - c.559+9C>G r.(=) p.(=)
-/. - c.559+9C>G r.(=) p.(=)
-/. - c.560-7T>A r.(=) p.(=)
-?/. - c.579G>A r.(?) p.(Glu193=)
+/. - c.618G>C r.(?) p.(Lys206Asn)
+/. - c.618G>C r.(?) p.(Lys206Asn)
+/. - c.635-1G>A r.spl p.?
+/. - c.635-1G>A r.spl p.?
+/. - c.635-1G>A r.spl p.?
+/. - c.637G>T r.(?) p.(Glu213Ter)
+/. - c.640C>T r.(?) p.(Arg214Ter)
+/. - c.649A>G r.(?) p.(Arg217Gly)
+/. - c.649A>G r.(?) p.(Arg217Gly)
+/. - c.649_651del r.(?) p.(Arg217del)
+/. - c.649_651del r.(?) p.(Arg217del)
+/. - c.668G>T r.(?) p.(Arg223Leu)
+?/. - c.710+1G>A r.spl? p.?
+/. - c.710+1G>A r.spl? p.?
-?/. - c.710+14C>T r.(=) p.(=)
-/. - c.711-4G>A r.spl? p.?
-?/. - c.718C>T r.(?) p.(Arg240Cys)
?/. - c.723dup r.(?) p.(Asn242Glufs*27)
+?/. - c.749C>A r.(?) p.(Ser250Tyr)
+?/. - c.749C>A r.(?) p.(Ser250Tyr)
+?/. - c.775C>T r.(?) p.(Arg259Ter)
-?/. - c.829G>A r.(?) p.(Ala277Thr)
-?/. - c.829G>A r.(?) p.(Ala277Thr)
-?/. - c.838C>T r.(?) p.(His280Tyr)
?/. - c.838C>T r.(?) p.(His280Tyr)
-/. - c.858+4C>T r.spl? p.?
-?/. - c.859-4A>G r.spl? p.?
-?/. - c.861A>T r.(?) p.(Glu287Asp)
+/. - c.877C>T r.(?) p.(Arg293Ter)
+?/. 9 c.877C>T r.(?) p.(Arg293*)
+/+ - c.909G>A r.859_910del p.?
+/. - c.909G>A r.(?) p.(Thr303=)
?/. - c.932T>C r.(?) p.(Val311Ala)
-?/. - c.933del r.(?) p.(Asn312Ilefs*24)
?/. - c.937C>T r.(?) p.(Arg313Trp)
-/. - c.959T>C r.(?) p.(Val320Ala)
-?/. - c.959T>C r.(?) p.(Val320Ala)
-?/. - c.975C>T r.(?) p.(Ser325=)
-?/. - c.1015A>G r.(?) p.(Thr339Ala)
-?/. - c.1173A>C r.(?) p.(Pro391=)
-?/. - c.1245G>A r.(?) p.(Thr415=)
-/. - c.1248G>A r.(?) p.(Glu416=)
-/. - c.1248G>A r.(?) p.(Glu416=)
-/. - c.*48T>C r.(=) p.(=)
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