All variants in the CLCN5 gene

Information The variants shown are described using the NM_000084.4 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.344A>G r.(?) p.(Lys115Arg) - VUS g.49840588A>G g.50075933A>G CLCN5(NM_000084.2):c.344A>G (p.(Lys115Arg)), CLCN5(NM_001127899.3):c.554A>G (p.K185R) - CLCN5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.344A>G r.(?) p.(Lys115Arg) - likely benign g.49840588A>G g.50075933A>G CLCN5(NM_000084.2):c.344A>G (p.(Lys115Arg)), CLCN5(NM_001127899.3):c.554A>G (p.K185R) - CLCN5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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