Transcript #00007068 (NM_000117.2, EMD gene)

Transcript name emerin
Gene name EMD (emerin)
Chromosome X
Transcript - NCBI ID NM_000117.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000108.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1i_6_ c.(82+1_831)_(*1_?)delins[TGCAGTTCACTGCAATC;[NM_001456.3:c.(2022+1_2023-1)_(*1_?)inv]] r.? p.?
+/. - c.(?_-252)_(*252_?)del r.? p.?
./. - c.-897039_*349dup r.0? p.0?
./. - c.-42004_*1112872dup - -
./. - c.-37437_*251551dup r.0? p.0?
+/. 1 c.-4721_*13846del r.0 p.0
+/. _1_6_ c.(?_-248)_(*326_?)del r.0 p.0
+/. 1 c.(?_-248)_(*326_?)del r.0 p.0?
+/. 1 c.(?_-248)_(*326_?)del r.0 p.0?
+/. 1 c.(?_-248)_(*326_?)del r.0? p.0?
+/. 1 c.(?_-248)_(*326_?)del r.0? p.0?
+/. 1 c.(?_-248)_(*326_?)del r.0 p.0?
-/. 1 c.(?_-248)_(*326_?)inv r.(=) p.(=)
?/. 1 c.-139_-118del r.(?) p.(=)
?/. 1 c.-139_-118del r.(?) p.(=)
+/. 1 c.? r.55_83del p.Tyr19Ilefs*4
+/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.1a>g p.0?
+/. 1 c.1A>G r.(?) p.0?
+/. 1 c.2T>C r.(?) p.0?
+/. 1 c.2T>G r.(?) p.0?
+/. 1 c.2T>G r.(?) p.0?
+/. 1 c.3G>A r.3g>a p.0
+/. 1 c.3G>A r.(?) p.0?
?/. 1 c.3G>A r.(?) p.(Met1?)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.(3_31del?) r.(?) p.(fs*)
+/. 1 c.3_31del r.(?) p.0?
+/. 1 c.7_188-23delins(130) r.? p.(Asn3*)
?/. 1 c.12C>T r.(?) p.(=)
-?/. - c.30C>G r.(?) p.(Thr10=)
+/. 1 c.31del r.(?) p.(Glu11Serfs*2)
+/. 1 c.57C>G r.(?) p.(Tyr19*)
-/. - c.66G>T r.(?) p.(Pro22=)
?/. - c.71G>C r.(?) p.(Gly24Ala)
+/. 1 c.82+1del r.54_82del p.Tyr19Ilefs*4
+/. 1 c.82+1del r.spl p.?
+/. 1 c.82+1G>T r.spl p.?
+/. 1 c.82+5G>C r.54_82del p.fs?
-?/. - c.82+5G>T r.spl? p.?
+/. 1 c.82+6_82+7insCG r.spl? p.(?)
-?/. - c.82+17G>A r.(=) p.(=)
-/. - c.83-13C>G r.(=) p.(=)
-/. - c.83-13C>G r.(=) p.(=)
+/. 2 c.83-4_83del r.spl p.?
+/. 2 c.83-2A>C r.spl p.?
+/. 2 c.96_155del r.(?) p.(Arg32_Pro51del)
+/. 2 c.99_157del r.(?) p.(Tyr34Valfs*7)
+/. 2 c.100del r.(?) p.(Tyr34Thrfs*31)
+/. 2 c.102C>G r.102c>g p.Tyr34*
+/. 2 c.102C>G r.(?) p.(Tyr34*)
-?/. - c.105G>A r.(?) p.(Glu35=)
+/. 2 c.106A>T r.(?) p.(Lys36*)
-?/. - c.108G>A r.(?) p.(Lys36=)
-/. - c.108G>A r.(?) p.(Lys36=)
-?/. - c.108G>A r.(?) p.(Lys36=)
+?/. - c.110_112del r.(?) p.(Lys37del)
+/. 2 c.123C>G r.(?) p.(Tyr41*)
+/. 2 c.124G>T r.(?) p.(Glu42*)
+/. 2 c.130C>T r.(?) p.(Gln44*)
+/. 2 c.130C>T r.(?) p.(Gln44*)
+/. 2 c.130C>T r.130c>u p.Gln44*
+/. 2 c.130C>T r.(?) p.(Gln44*)
-/. - c.132G>A r.(?) p.(Gln44=)
+/. 2 c.138_163del r.138_163del p.Ser49Leufs*3
+/. 2 c.139_140dup r.139_140dup p.Leu48Glyfs*18
-/. - c.144C>T r.(?) p.(Leu48=)
-/. - c.144C>T r.(?) p.(Leu48=)
?/. - c.148C>T r.(?) p.(Pro50Ser)
?/. - c.148C>T r.(?) p.(Pro50Ser)
?/. - c.149C>A r.(?) p.(Pro50His)
?/. - c.149C>A r.(?) p.(Pro50His)
?/. 2 c.149C>A r.(?) p.(Pro50His)
+/. 2 c.153del r.(?) p.(Ser52Alafs*13)
+/. 2 c.153del r.(?) p.(Ser52Alafs*13)
+/. 2 c.153del r.(?) p.(Ser52Alafs*13)
+/. 2 c.153del r.(?) p.(Ser52Alafs*13)
+/. 2 c.153del r.(?) p.(Ser52Alafs*13)
?/. - c.157T>G r.(?) p.(Ser53Ala)
+/. 2 c.161C>T r.(?) p.(Ser54Phe)
-?/. - c.165C>A r.(?) p.(Ala55=)
+/. 2 c.165del r.(?) p.(Ala56Profs*9)
+/. 2 c.174_175del r.(?) p.(Tyr59*)
+/. 2 c.177T>A r.(?) p.(Tyr59*)
+/. 2 c.177T>A r.(?) p.(Tyr59*)
+/. 2 c.178dup r.(?) p.(Ser60Lysfs*4)
+/. 2 c.184dup r.(?) p.(Ser62Phefs*2)
+/. 2 c.186dup r.(?) p.(Asp63*)
+/. 2 c.187+1G>A r.spl p.?
+/. 2 c.187+1G>A r.spl p.?
-/. - c.188-13C>T r.(=) p.(=)
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