All transcript variants in gene CLCN7

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

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     
-/. - c.1170A>T benign r.(?) p.(=) g.1503879T>A - CLCN7(NM_001287.5):c.1170A>T (p.A390=) - CLCN7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1170A>T benign r.(?) p.(=) g.1503879T>A - CLCN7(NM_001287.5):c.1170A>T (p.A390=) - CLCN7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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