Transcript #00025431 (NM_000084.4, CLCN5 gene)

Transcript name chloride voltage-gated channel 5, transcript variant 3
Gene name CLCN5 (chloride channel, voltage-sensitive 5)
Chromosome X
Transcript - NCBI ID NM_000084.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000075.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-25458A>G r.(?) p.(=)
+/. 1 c.-189G>A r.spl? p.(=)
+?/. - c.-47-433G>A r.(=) p.(=)
-?/. - c.-47-140T>C r.(=) p.(=)
+/. _2_2i c.(?_-1)_(105+1_106-1)del r.0? p.0?
+/. _2_3i c.(?_-1)_(205+1_206-1)del r.0? p.0?
+/. _2_4i c.(?_-1)_(393+1_394-1)del r.0? p.0?
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0
+/. 8 c.? r.(?) p.(Val363fs)
?/. - c.42T>G r.(?) p.(Tyr14Ter)
+?/. 2 c.82C>T r.(?) p.(Arg28*)
+?/. 2 c.82C>T r.(?) p.(Arg28*)
+/. 2 c.82C>T r.(?) p.(Arg28*)
+?/. 2 c.82C>T r.(?) p.(Arg28*)
+?/. 2 c.82C>T r.(?) p.(Arg28*)
+/. 2 c.82C>T r.(?) p.(Arg28*)
+?/. 2 c.82C>T r.(?) p.(Arg28*)
+?/. 2 c.82C>T r.(?) p.(Arg28*)
+?/. 2 c.82C>T r.(?) p.(Arg28*)
+/. 2 c.87_88insAAC r.(?) p.(Asp29_Arg30insHis)
+?/. 2 c.92del r.(?) p.(Asp31Valfs*17)
+?/. 2 c.105G>A r.spl? p.(Glu35=)
-/. - c.106-17T>G r.(=) p.(=)
+?/. 2i c.106-17T>G r.(=) p.(=)
?/. - c.122A>G r.(?) p.(Lys41Arg)
+/. 3 c.166del r.(?) p.(Ser56Profs*5)
+/. - c.169G>C r.(?) p.(Gly57Arg)
+/. 3 c.170G>T r.(?) p.(Gly57Val)
+/. 3 c.170G>T r.(?) p.(Gly57Val)
+/. 3 c.173G>T r.(?) p.(Trp58Leu)
+?/. 3i c.206-6A>T r.(=) p.(=)
+?/. 3i c.206-1G>C r.spl p.?
+?/. 4 c.308G>A r.(?) p.(Trp103*)
+?/. 4 c.309G>A r.(?) p.(Trp103*)
?/. - c.344A>G r.(?) p.(Lys115Arg)
-?/. - c.344A>G r.(?) p.(Lys115Arg)
+/. 4 c.384C>G r.(?) p.(Ser128Arg)
+/. 4i c.393+4A>G r.spl p.?
-?/. - c.393+6_393+7del r.(=) p.(=)
?/. 4i c.394-110del r.(=) p.(=)
?/. 4i c.394-110del r.(=) p.(=)
+?/. 4i c.394-2A>G r.spl p.?
+?/. 4i c.394-2A>G r.spl p.?
+?/. 4i c.394-2A>G r.spl p.?
+?/. 4i c.394-2A>G r.spl p.?
+/. - c.394-1G>C r.spl? p.?
+/. 4i_6i c.(393+1_394-1)_(723+1_724-1)del r.394_723del p.Gly132_Glu241del
+/. 5 c.403_404del r.(?) p.(Ala135Leufs*37)
?/. - c.407A>G r.(?) p.(Tyr136Cys)
+/. 5 c.410dup r.(?) p.(Val138Serfs*35)
-?/. - c.430G>A r.(?) p.(Val144Ile)
+?/. 5 c.438G>A r.(?) p.(Trp146*)
+/. 5i c.516+1G>A r.394_516del p.Gly132_Glu172del
+/. 5i c.516+2T>G r.394_516del p.Gly132_Glu172del
+?/. - c.516+5G>C r.spl? p.?
+?/. 5i c.517-8A>G r.spl p.(=)
+/. 6 c.536G>A r.(?) p.(Gly179Asp)
+/. 6 c.536G>A r.(?) p.(Gly179Asp)
+/. 6 c.574del r.(?) p.(Val192LeufsTer15)
+/. 6 c.597_598dup r.(?) p.(Leu200Argfs*8)
+/. 6 c.599T>G r.(?) p.(Leu200Arg)
+/. 6 c.608C>A r.(?) p.(Ser203*)
+/. 6 c.608C>A r.(?) p.(Ser203*)
+/. 6 c.608C>T r.(?) p.(Ser203Leu)
+/. 6 c.608C>T r.(?) p.(Ser203Leu)
+/. 6 c.608C>T r.(?) p.(Ser203Leu)
+/. 6 c.608C>T r.(?) p.(Ser203Leu)
+/. 6 c.635G>C r.(?) p.(Gly212Ala)
+/. 6 c.635G>C r.(?) p.(Gly212Ala)
+/. 6 c.635G>C r.(?) p.(Gly212Ala)
+/. 6 c.635G>C r.(?) p.(Gly212Ala)
+/. 6 c.661T>C r.(?) p.(Cys221Arg)
+/. 6 c.661T>C r.(?) p.(Cys221Arg)
+/. 6 c.661T>C r.(?) p.(Cys221Arg)
+/. 6 c.661T>C r.(?) p.(Cys221Arg)
+/. 6 c.661T>C r.(?) p.(Cys221Arg)
+/. 6 c.661T>C r.(?) p.(Cys221Arg)
+/. 6 c.661T>C r.(?) p.(Cys221Arg)
+/. 6 c.661T>C r.(?) p.(Cys221Arg)
+/. 6 c.661T>C r.(?) p.(Cys221Arg)
+/. 6 c.681_682del r.(?) p.(His227Glnfs*9)
+?/. 6 c.692A>T r.(?) p.(Lys231Ile)
+/. 6 c.699del r.(?) p.(Lys234Argfs*20)
+?/. 6 c.716G>C r.(?) p.(Arg239Pro)
+?/. 6 c.721G>T r.(?) p.(Glu241*)
+?/. 6i c.723+1G>A r.spl? p.?
+/. 6i c.723+2T>C r.0 p.0
+?/. 6i c.724-35T>G r.(=) p.(=)
+?/. 6i c.724-2A>G r.spl p.?
+?/. 6i c.724-2A>G r.spl p.?
+?/. 6i c.724-1G>A r.(?) p.(?)
+/. - c.731C>T r.(?) p.(Ser244Leu)
+/. 7 c.731C>T r.(?) p.(Ser244Leu)
+/. 7 c.731C>T r.(?) p.(Ser244Leu)
+/. 7 c.731C>T r.(?) p.(Ser244Leu)
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