Transcript #00000298 (NM_001830.3, CLCN4 gene)

Transcript name chloride channel 4
Gene name CLCN4 (chloride channel, voltage-sensitive 4)
Chromosome X
Transcript - NCBI ID NM_001830.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001821.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 3 c.(40_50)? r.(?) p.(Asp15Serfs*18)
+/. 12 c.2191G>M r.(?) p.(Gly731Arg)
+?/. - c.144+2T>G r.spl? p.?
-?/. - c.145-4C>A r.spl? p.?
+?/. - c.185A>G r.(?) p.(Lys62Arg)
+/. 4 c.232G>A r.(?) p.(Gly78Ser)
?/. - c.432+216_432+217del r.(=) p.(=)
?/. - c.432+216_432+217del r.(=) p.(=)
?/. - c.432+232_432+233del r.(=) p.(=)
-?/. - c.433G>A r.(?) p.(Gly145Ser)
-?/. - c.486G>A r.(?) p.(Leu162=)
?/. - c.555+97A>C r.(=) p.(=)
?/. - c.555+97A>C r.(=) p.(=)
?/. - c.635T>G r.(?) p.(Val212Gly)
-?/. - c.651C>T r.(?) p.(Ser217=)
+/. 7 c.661C>G r.(?) p.(Leu221Val)
+?/. - c.677C>T r.(?) p.(Pro226Leu)
-?/. - c.688G>A r.(?) p.(Val230Met)
-?/. - c.718A>G r.(?) p.(Ser240Gly)
-?/. - c.822C>T r.(?) p.(Gly274=)
?/. - c.844G>A r.(?) p.(Val282Ile)
-?/. - c.948C>T r.(?) p.(Leu316=)
?/. - c.949G>A r.(?) p.(Val317Ile)
-?/. - c.1098G>C r.(?) p.(Gly366=)
-?/. - c.1107G>A r.(?) p.(Pro369=)
-?/. - c.1181C>G r.(?) p.(Thr394Ser)
-?/. - c.1320G>A r.(?) p.(Thr440=)
-?/. - c.1360G>A r.(?) p.(Val454Ile)
+?/. - c.1389G>A r.(?) p.(Lys463=)
-?/. - c.1389+4A>C r.spl? p.?
-?/. - c.1401C>T r.(?) p.(Gly467=)
-?/. - c.1431G>A r.(?) p.(Ala477=)
-?/. - c.1437G>A r.(=) p.(=)
+?/. - c.1450G>A r.(?) p.(Gly484Arg)
-?/. - c.1479T>C r.(?) p.(His493=)
-?/. - c.1548C>T r.(?) p.(Tyr516=)
-?/. - c.1566G>A r.(?) p.(Ala522=)
-?/. - c.1575C>T r.(?) p.(Leu525=)
?/. - c.1576+185_1576+186dup r.(=) p.(=)
+/. 11 c.1606G>A r.(?) p.(Val536Met)
-?/. - c.1632G>A r.(=) p.(=)
?/. - c.1646T>A r.(?) p.(Ile549Asn)
-?/. - c.1758G>A r.(=) p.(=)
-?/. - c.1758G>A r.(?) p.(Val586=)
-?/. - c.1829C>T r.(?) p.(Ser610Leu)
?/. - c.1843G>C r.(?) p.(Asp615His)
-?/. - c.1887C>T r.(?) p.(Thr629=)
?/. - c.1975+441A>G r.(=) p.(=)
+?/. - c.1976-1G>A r.spl? p.?
+?/. - c.2025C>A r.(?) p.(Tyr675Ter)
-?/. - c.2030C>T r.(?) p.(Thr677Met)
?/. - c.*156A>G r.(=) p.(=)
?/. - c.*156A>G r.(=) p.(=)
?/. - c.*719C>T r.(=) p.(=)
?/. - c.*719C>T r.(=) p.(=)
?/. - c.*1771A>C r.(=) p.(=)
?/. - c.*1771A>C r.(=) p.(=)
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