Transcript #00000067 (NM_004992.3, MECP2 gene)

Transcript name methyl CpG binding protein 2 (Rett syndrome)
Gene name MECP2 (methyl CpG binding protein 2 (Rett syndrome))
Chromosome X
Transcript - NCBI ID NM_004992.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004983.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

4899 entries on 49 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 2i_4_ c.(26+1_27-1)_(*1_?)del r.? p.?
+/. _1_4_ c.(?_-266015)_(*287154_?)dup r.(?) p.?
./. - c.-246944_*585012dup r.0? p.0?
-/- - c.-380C r.0 p.0
-/- - c.-380C r.0 p.0
-/- - c.-380C r.0 p.0
-/- - c.-380C r.0 p.0
-/- - c.-380C r.0 p.0
-/- - c.-380C r.0 p.0
-/- - c.-380C r.0 p.0
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_2i c.(?_-226)_(26+1_27-1)del r.(?) p.(?)
+/+ 1_4 c.(?_-226)_(*8554_?)del r.(?) p.(?)
+/+ 1_4 c.(?_-226)_(*8554_?)del r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
?/? 1_4 c.(?_-226)_(*8554_?)dup r.(?) p.(?)
+/. 1 c.-160A>G r.(=) p.(=)
+/. - c.-156C>T r.(?) p.(=)
+/. 1 c.-156C>T r.(?) p.(=)
-?/. - c.-140_-138del r.(?) p.(=)
?/. - c.-140_-138dup r.(?) p.(=)
?/. - c.-140_-138dup r.(?) p.(=)
+/. 1i_2i c.(-174_-98-44)_(-39_27-47)del r.? p.0?
+/. 1i_4_ c.(-174_-98-44)_(*5350_?)del r.? p.0?
?/. - c.-114_-112dup r.(?) p.(=)
?/. - c.-114_-112dup r.(?) p.(=)
?/? 2 c.-15C>T r.(=) p.(=)
?/? 2 c.-15C>T r.(=) p.(=)
+/. 2i_3i c.(-39_27-47)_(357_378-32)del r.? p.?
+/. 2i_4_ c.(-39_27-47)_(*5350_?)del r.? p.?
+/+ 4 c.(1156_1197?) r.(?) p.(Leu386fs)
+/+ 4 c.(1156_1197?) r.(?) p.(Leu386fs)
+/+ 4 c.(1156_1197?) r.(?) p.(Leu386fs)
+/+ 4 c.(1156_1197?) r.(?) p.(Leu386fs)
+/. 2i_4_ c.(26+1_27-1)_*8554{0} r.? p.?
+/. - c.(378_*8554)? r.? p.?
+/. _1_1i c.-226_(-174_-98-44)[0] r.0? p.0?
+/. _1_2i c.-226_(-39_27-47)[0] r.0? p.0?
?/? 0 c.? r.(?) p.(?)
+/+ 0 c.? r.(?) p.(Ser373*)
?/? 0 c.? r.(?) p.(Phe157Leu)
+/. 4 c.[1072_1084del;1148_1159del] r.(?) p.(Ala358Profs*43)
+/+ 4_4_ c.[947_1027delins1198_1254inv;1132_*11076del] r.? p.?
?/? 2 c.(?_1)dup r.(?) p.(?)
?/? 2 c.(?_1)_(26+1_27-1)dup r.(?) p.(?)
+/. 2 c.7G>C r.(?) p.(Ala3Pro)
+/+ 2i c.26+2T>A r.(=) p.(=)
-/. - c.26+27del r.(=) p.(=)
-/. - c.26+27del r.(=) p.(=)
?/. - c.26+28del r.(=) p.(=)
?/. - c.26+28del r.(=) p.(=)
?/. - c.26+67dup r.(=) p.(=)
?/? 2i c.26+15557C>G r.(=) p.(=)
+/+ 2i c.26+15557C>G r.(=) p.(=)
+/+ 2i c.26+15557C>G r.(=) p.(=)
+/+ 2i_4 c.26+25171_13878delins(14) r.(?) p.(?)
+/+ 3_4 c.(?_27)_(1000_?)dup r.(?) p.(?)
+/+ 2i_4 c.27-12520_*5073del r.spl? p.?
+/+ 2i_4 c.27-6214_1191del r.spl? p.?
+/+ 2i_4 c.27-6026_1190delinsGT r.spl? p.?
+/+ 2i_4 c.27-5944_1132del r.spl? p.?
+/+ 2i_4 c.27-5862_1132del r.spl? p.?
+/+ 2i_4 c.27-5774_902delinsGTGCCCGGACTGATGTCA r.spl? p.?
+/+ 2i_4 c.27-5690_1208delins(42) r.(?) p.(?)
+/+ 2i_4 c.27-4722_*112delinsCACTTTGTG r.spl? p.?
+/+ 2i_4 c.27-4722_*739delins(43) r.(?) p.(?)
+/+ 2i_4 c.27-3928_1184del r.spl? p.?
?/? 2i c.27-55G>A r.(=) p.(=)
?/? 2i c.27-9A>G r.(=) p.(=)
?/? 2i c.27-8C>G r.(=) p.(=)
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