Transcript #00005155 (NM_005199.4, CHRNG gene)

Transcript name cholinergic receptor, nicotinic, gamma
Gene name CHRNG (cholinergic receptor, nicotinic, gamma (muscle))
Chromosome 2
Transcript - NCBI ID NM_005199.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_005190.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

79 entries on 1 page. Showing entries 1 - 79.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-4590G>A r.(?) p.(=)
?/. - c.-4548T>C r.(?) p.(=)
+/+ 1 c.13C>T r.(?) p.(Gln4*)
?/? 1 c.55G>A r.(?) p.(Gly19Arg)
+?/. - c.56-1G>A r.spl p.?
+/+ 2 c.56-1G>A r.spl p.?
?/? 2 c.82C>T r.(?) p.(Arg28Cys)
?/. - c.86T>A r.(?) p.(Leu29Gln)
?/. - c.86T>A r.(?) p.(Leu29Gln)
-?/. - c.125G>A r.(?) p.(Arg42Gln)
-?/. - c.125G>A r.(?) p.(Arg42Gln)
+/+ 2 c.136C>T r.(?) p.(Arg46*)
+/. 2 c.136C>T r.(?) p.(Arg46*)
+/. - c.136C>T r.(?) p.(Arg46*)
-/. - c.195+14C>T r.(=) p.(=)
+/+ 3 c.202C>T r.(?) p.(Arg68*)
+/+ 4 c.256C>T r.(?) p.(Arg86Cys)
?/? 4 c.299T>G r.(?) p.(Leu100Arg)
+/+ 4 c.301_309dup r.(?) p.(Arg101_Pro103dup)
+/+ 4 c.320T>G r.(?) p.(Val107Gly)
?/? 4i c.351-9T>C r.spl? p.(=)
?/. - c.366C>A r.(?) p.(Phe122Leu)
?/? 5 c.367G>A r.(?) p.(Glu123Lys)
+/+ 5 c.388del r.(?) p.(Val130Cysfs*53)
+/+ 5 c.397del r.(?) p.(Ser133Profs*50)
+/+ 5 c.401_402del r.(?) p.(Pro134Argfs*43)
+?/. - c.420G>A r.(?) p.(Trp140*)
-?/. - c.444C>T r.(?) p.(Ser148=)
-?/. - c.445G>A r.(?) p.(Ala149Thr)
-?/. - c.445G>A r.(?) p.(Ala149Thr)
-?/. - c.445G>A r.(?) p.(Ala149Thr)
+/. - c.459dup r.(?) p.(Val154Serfs*24)
+/. - c.459dup r.(?) p.(Val154SerfsTer24)
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24)
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24)
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24)
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24)
+/? 5 c.459dup r.(?) p.(Val154Serfs*24)
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24)
+?/. - c.459dup r.(?) p.(Val154SerfsTer24)
+/. - c.459dup r.(?) p.(Val154Serfs*24)
+/. - c.459dup r.(?) p.(Val154Serfs*24)
+/. - c.459dup r.(?) p.(Val154Serfs*24)
+/. - c.459dup r.(?) p.(Val154Serfs*24)
-?/. - c.471C>T r.(?) p.(Phe157=)
-/. - c.507-13C>T r.(=) p.(=)
-/. - c.507-13C>T r.(=) p.(=)
+/+ 7 c.715C>T r.(?) p.(Arg239Cys)
+/+ 7 c.715C>T r.(?) p.(Arg239Cys)
+?/. - c.753_754del r.(?) p.(Val253Alafs*44)
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44)
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44)
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44)
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44)
+/. - c.753_754del r.(?) p.(Val253Alafs*44)
?/. - c.754T>C r.(?) p.(Cys252Arg)
+?/. 8_81 c.806-17_806del r.spl p.?
+/+ 8 c.807dup r.(?) p.(Gly270Trpfs*28)
?/. - c.807dup r.(?) p.(Gly270TrpfsTer28)
-/. - c.921-12C>T r.(=) p.(=)
-?/. - c.951C>A r.(?) p.(Ile317=)
+/+ 10 c.1132_1136dup r.(?) p.(Gly380Profs*39)
+/. 10 c.1210C>T r.(?) p.(Gln404*)
+/+ 10 c.1249G>C r.(?) p.(Glu417Gln)
?/? 10 c.1259C>T r.(?) p.(Pro420Leu)
+/+ 11 c.1292_1311del r.(?) p.(Leu431Hisfs*22)
?/. - c.1381G>A r.(?) p.(Gly461Arg)
+/+ 12 c.1408C>T r.(?) p.(Arg470*)
-/. - c.1422C>T r.(?) p.(Arg474=)
-/. 12 c.1422C>T r.(?) p.(=)
?/. - c.1516C>T r.(?) p.(Pro506Ser)
?/? 12 c.1516C>T r.(?) p.(Pro506Ser)
?/. - c.1516C>T r.(?) p.(Pro506Ser)
-?/. - c.*2971_*2976del r.(=) p.(=)
-?/. - c.*3718G>A r.(=) p.(=)
-?/. - c.*3725T>C r.(=) p.(=)
-?/. - c.*3734A>G r.(=) p.(=)
-?/. - c.*3753C>G r.(=) p.(=)
-?/. - c.*3943C>T r.(=) p.(=)
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