Transcript #00005236

Transcript name transcript variant 1
Gene name CLCN7 (chloride channel, voltage-sensitive 7)
Chromosome 16
Transcript - NCBI ID NM_001287.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_001278.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

42 entries on 1 page. Showing entries 1 - 42.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-134G>C benign r.(?) p.(=)
-/. - c.126T>C benign r.(?) p.(=)
-?/. - c.286-7C>A likely benign r.(=) p.(=)
-/. - c.485-10T>C benign r.(=) p.(=)
+/. - c.643G>A pathogenic r.(?) p.(Gly215Arg)
-/. - c.660C>T benign r.(?) p.(=)
-?/. - c.675+19T>G likely benign r.(=) p.(=)
-?/. - c.678G>A likely benign r.(?) p.(=)
-/. - c.696C>T benign r.(?) p.(=)
-?/. - c.714G>A likely benign r.(?) p.(=)
-?/. - c.739-20C>T likely benign r.(=) p.(=)
?/. - c.746C>T VUS r.(?) p.(Pro249Leu)
-/. - c.822+17T>C benign r.(=) p.(=)
+?/. - c.856C>T likely pathogenic r.(?) p.(Arg286Trp)
?/. - c.899C>T VUS r.(?) p.(Ala300Val)
-/. - c.900G>A benign r.(?) p.(=)
-?/. - c.917-18C>T likely benign r.(=) p.(=)
-/. - c.1128G>A benign r.(?) p.(=)
-/. - c.1170A>T benign r.(?) p.(=)
-/. - c.1170A>T benign r.(?) p.(=)
-/. - c.1245T>C benign r.(?) p.(=)
-/. - c.1252G>A benign r.(?) p.(Val418Met)
-/. - c.1252G>A benign r.(?) p.(Val418Met)
-?/. - c.1354-7C>T likely benign r.(=) p.(=)
-?/. - c.1452C>G likely benign r.(?) p.(=)
-/. - c.1797+16G>A benign r.(=) p.(=)
-/. - c.1798-10C>T benign r.(=) p.(=)
-/. - c.1798-8G>A benign r.(=) p.(=)
-?/. - c.1883+7C>T likely benign r.(=) p.(=)
-/. - c.1884-16C>T benign r.(=) p.(=)
-/. - c.1961C>T benign r.(?) p.(Thr654Met)
-?/. - c.1961C>T likely benign r.(?) p.(Thr654Met)
-/. - c.2073+16C>T benign r.(=) p.(=)
+/. - c.2144A>G pathogenic (dominant) r.(?) p.(Tyr715Cys)
+/. - c.2144A>G pathogenic (dominant) r.(?) p.(Tyr715Cys)
-?/. - c.2403G>T likely benign r.(?) p.(=)
-/. - c.*19A>G benign r.(=) p.(=)
-?/. - c.*2970C>T likely benign r.(=) p.(=)
-?/. - c.*3015C>T likely benign r.(=) p.(=)
-?/. - c.*3094C>T likely benign r.(=) p.(=)
?/. - c.*3670G>A VUS r.(=) p.(=)
-?/. - c.*4194G>A likely benign r.(=) p.(=)
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