Unique variants in gene CLCN7

Information The variants shown are described using the NM_001287.5 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.126T>C benign r.(=) p.(=) g.1524850A>G - CLCN7:NM_001287.5:c.126T>C (= (Pro42Pro) - CLCN7_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.643G>A pathogenic r.(?) p.(Gly215Arg) g.1509140C>T - CLCN7:NM_001287.5:c.643G>A (Gly215Arg) - CLCN7_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.675+19T>G likely benign r.(=) p.(=) g.1509089A>C - CLCN7:NM_001287.5:c.675+19T>G (?) - CLCN7_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.678G>A likely benign r.(=) p.(=) g.1507755C>T - CLCN7:c.678G>A (T226=) - CLCN7_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.696C>T benign r.(=) p.(=) g.1507737G>A - CLCN7:NM_001287.5:c.696C>T (= (Ser232Ser) - CLCN7_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.739-20C>T likely benign r.(=) p.(=) g.1507358G>A - CLCN7:NM_001287.5:c.739-20C>T (?) - CLCN7_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.746C>T VUS r.(?) p.(Pro249Leu) g.1507331G>A - CLCN7:NM_001287.5:c.746C>T (Pro249Leu) - CLCN7_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.856C>T likely pathogenic r.(?) p.(Arg286Trp) g.1506174G>A - CLCN7:c.856C>T (R286W) - CLCN7_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1170A>T benign r.(=) p.(=) g.1503879T>A - CLCN7:c.1170A>T (=), CLCN7:NM_001287.5:c.1170A>T (= (Ala390Ala) - CLCN7_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.1252G>A benign r.(?) p.(Val418Met) g.1502857C>T - CLCN7:c.1252G>A (V418M) - CLCN7_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1452C>G likely benign r.(=) p.(=) g.1500663G>C - CLCN7:NM_001287.5:c.1452C>G (= (Ser484Ser) - CLCN7_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1883+7C>T likely benign r.(=) p.(=) g.1498675G>A - CLCN7:c.1883+7C>T - CLCN7_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1884-16C>T benign r.(=) p.(=) g.1498501G>A - CLCN7:NM_001287.5:c.1884-16C>T (?) - CLCN7_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.2144A>G pathogenic (dominant) r.(?) p.(Tyr715Cys) g.1497499T>C - - - CLCN7_000014 - PubMed: Fichtman 2019 - - De novo - - - - - Johan den Dunnen
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