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

16 entries on 1 page. Showing entries 1 - 16.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.126T>C benign r.(=) p.(=)
+/. - c.643G>A pathogenic r.(?) p.(Gly215Arg)
-?/. - c.675+19T>G likely benign r.(=) p.(=)
-?/. - c.678G>A likely benign r.(=) p.(=)
-/. - c.696C>T benign r.(=) p.(=)
-?/. - c.739-20C>T likely benign r.(=) p.(=)
?/. - c.746C>T VUS r.(?) p.(Pro249Leu)
+?/. - c.856C>T likely pathogenic r.(?) p.(Arg286Trp)
-/. - c.1170A>T benign r.(=) p.(=)
-/. - c.1170A>T benign r.(=) p.(=)
-/. - c.1252G>A benign r.(?) p.(Val418Met)
-?/. - c.1452C>G likely benign r.(=) p.(=)
-?/. - c.1883+7C>T likely benign r.(=) p.(=)
-/. - c.1884-16C>T benign r.(=) p.(=)
+/. - c.2144A>G pathogenic (dominant) r.(?) p.(Tyr715Cys)
+/. - c.2144A>G pathogenic (dominant) r.(?) p.(Tyr715Cys)
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