Transcript #00025424 (NM_000304.3, PMP22 gene)

Transcript name transcript variant 1
Gene name PMP22 (peripheral myelin protein 22)
Chromosome 17
Transcript - NCBI ID NM_000304.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000295.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_5_ c.-238_*1140{2} r.? p.?
+/. _1_5_ c.-238_*1140{2} r.? p.?
-/. - c.-141C>G r.(?) p.(=)
-/. - c.-134G>A r.(?) p.(=)
-/. - c.-40G>A r.(?) p.(=)
?/. - c.-34-24T>C r.(=) p.(=)
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{2} r.= p.=
+/. _1_5_ c.-238_*1140{0} r.0 p.0
+/. _1_5_ c.-238_*1140{0} r.0 p.0
+/. _1_5_ c.-238_*1140{0} r.0 p.0
+/. _1_5_ c.-238_*1140{0} r.0 p.0
+/. _1_5_ c.-238_*1140{0} r.0 p.0
+/. _1_5_ c.-238_*1140{2} r.? p.?
?/. 2 c.2T>C r.(?) p.0?
?/. 2 c.2T>C r.(?) p.0?
+/. 2i c.11del r.(?) p.(Leu4Argfs*3)
+/. 2 c.19_20del r.(?) p.(Ser7Tyrfs*30)
+/. 2 c.31_39del r.(?) p.(Leu11_Val13del)
+/. - c.36C>A r.(?) p.(His12Gln)
+/. 2 c.36C>A r.(?) p.(His12Gln)
+/. 2 c.47T>C r.(?) p.(Leu16Pro)
+/. - c.47T>C r.(?) p.(Leu16Pro)
+/. 2 c.56T>C r.(?) p.(Leu19Pro)
+/. - c.56T>C r.(?) p.(Leu19Pro)
+?/. 2 c.59_64del r.(?) p.(Phe20_Val21del)
+?/. 2 c.59_64del r.(?) p.(Phe20_Val21del)
+/. - c.65C>T r.(?) p.(Ser22Phe)
+/. 2 c.65C>T r.(?) p.(Ser22Phe)
+/. - c.68C>G r.(?) p.(Thr23Arg)
+/. 2 c.68C>G r.(?) p.(Thr23Arg)
+?/. - c.68C>G r.(?) p.(Thr23Arg)
+/. 2_2i c.75_78+2del r.spl p.?
+?/. 2_2i c.76_78+2delinsC r.spl p.?
+/. - c.78+1G>T r.spl? p.?
+/. - c.78+1G>T r.(=) p.(=)
+/. - c.78+5G>C r.spl p.?
+/. - c.78+5G>C r.spl p.?
+/. - c.78+5G>C r.spl p.?
?/. - c.79-23G>A r.(=) p.(=)
-/. - c.79-6C>T r.(=) p.(=)
-/. - c.79-6C>T r.(=) p.(=)
+/. 3 c.82T>C r.(?) p.(Trp28Arg)
+/. - c.82T>C r.(?) p.(Trp28Arg)
-/. - c.87C>T r.(?) p.(Ile29=)
+/. - c.88G>A r.(?) p.(Val30Met)
+/. 3 c.88G>A r.(?) p.(Val30Met)
+/. - c.110A>T r.(?) p.(Asp37Val)
+/. 3 c.110A>T r.(?) p.(Asp37Val)
+/. 2 c.130_131del r.(?) p.(Thr44Leufs*178)
+?/. - c.152dup r.(?) p.(His51GlnfsTer172)
+/. 3_3i c.174_178+7del r.spl p.?
+/. - c.178+1G>C r.spl? p.?
-?/. - c.178+7C>A r.(=) p.(=)
?/. - c.178+7C>A r.(=) p.(=)
-/. - c.178+22A>G r.(=) p.(=)
-/. - c.178+22A>G r.(=) p.(=)
-?/. - c.179-8510C>T r.(=) p.(=)
-?/. - c.179-8379C>T r.(=) p.(=)
-/. - c.179-17G>A r.(=) p.(=)
+/. - c.179-2A>G r.spl? p.?
+/. - c.179-1G>A r.spl? p.?
+/. - c.179-1G>C r.spl? p.?
+/. - c.183G>A r.(?) p.(Trp61Ter)
+/. 4 c.183G>A r.(?) p.(Trp61*)
+?/. - c.185T>G r.(?) p.(Leu62Arg)
?/. - c.185T>G r.(?) p.(Leu62Arg)
+/. - c.193G>T r.(?) p.(Val65Phe)
+/. 4 c.193G>T r.(?) p.(Val65Phe)
+/. - c.199G>A r.(?) p.(Ala67Thr)
+/. 4 c.199G>A r.(?) p.(Ala67Thr)
+/. - c.199G>C r.(?) p.(Ala67Pro)
+/. 4 c.199G>C r.(?) p.(Ala67Pro)
+?/. - c.200C>A r.(?) p.(Ala67Asp)
+/. - c.200C>A r.(=) p.(Ala67Asp)
+/. 4 c.206T>A r.(?) p.(Met69Lys)
+/. - c.206T>A r.(?) p.(Met69Lys)
+/. 4 c.206T>G r.(?) p.(Met69Arg)
+/. 4 c.212T>C r.(?) p.(Leu71Pro)
+/. - c.212T>C r.(?) p.(Leu71Pro)
+/. 4 c.214T>C r.(?) p.(Ser72Pro)
+/. - c.214T>C r.(?) p.(Ser72Pro)
+/. - c.215C>G r.(?) p.(Ser72Trp)
+/. 4 c.215C>G r.(?) p.(Ser72Trp)
+/. - c.215C>T r.(?) p.(Ser72Leu)
+/. - c.215C>T r.(?) p.(Ser72Leu)
+/. 4 c.215C>T r.(?) p.(Ser72Leu)
+/. 4 c.227del r.(?) p.(Ser76Thrfs*35)
+/. - c.227G>T r.(?) p.(Ser76Ile)
+/. 4 c.227G>T r.(?) p.(Ser76Ile)
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