Transcript #00005155

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

54 entries on 1 page. Showing entries 1 - 54.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/+ 1 c.13C>T - r.(?) p.(Gln4*)
?/? 1 c.55G>A - r.(?) p.(Gly19Arg)
+/+ 2 c.56-1G>A - r.spl p.?
?/? 2 c.82C>T - r.(?) p.(Arg28Cys)
?/. - c.86T>A VUS r.(?) p.(Leu29Gln)
-?/. - c.125G>A likely benign r.(?) p.(Arg42Gln)
-?/. - c.125G>A likely benign r.(?) p.(Arg42Gln)
+/+ 2 c.136C>T - r.(?) p.(Arg46*)
+/. 2 c.136C>T pathogenic (recessive) r.(?) p.(Arg46*)
-/. - c.195+14C>T benign 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.300_308dup - r.(?) p.(Arg101_Pro103dup)
+/+ 4 c.320T>G - r.(?) p.(Val107Gly)
?/. - c.350+8G>T VUS r.(=) p.(=)
?/? 4i c.351-9T>C - r.spl? p.?
?/? 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.445G>A likely benign r.(?) p.(Ala149Thr)
+/+ 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.(Val154Serfs*24)
-/. - c.507-13C>T benign r.(=) p.(=)
-/. - c.507-13C>T benign r.(=) p.(=)
+/+ 7 c.715C>T - r.(?) p.(Arg239Cys)
+/+ 7 c.715C>T - r.(?) p.(Arg239Cys)
+/+ 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 pathogenic r.(?) p.(Val253Alafs*44)
+/. - c.753_754del - r.(?) p.(Val253Alafs*44)
+?/. 8_81 c.806-17_806del - r.spl p.?
+/+ 8 c.807dup - r.(?) p.(Gly270Trpfs*28)
+?/. - c.807dup likely pathogenic r.(?) p.(Gly270Trpfs*28)
-/. - c.921-12C>T benign r.(=) p.(=)
+/+ 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.1322G>A VUS r.(?) p.(Cys441Tyr)
+/+ 12 c.1408C>T - r.(?) p.(Arg470*)
?/. - c.1421G>A VUS r.(?) p.(Arg474His)
-/. - c.1422C>T benign r.(=) p.(=)
-/. 12 c.1422C>T - r.(?) p.(=)
?/? 12 c.1516C>T - r.(?) p.(Pro506Ser)
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