Unique variants in the DKC1 gene

Information The variants shown are described using the NM_001363.5 transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 2 - c.1058C>T - r.(?) p.(Ala353Val) Pathogenic g.15397C>T - L A Chong et al.(2009) DKC1_000001 rs121912288 - - Nur Aisyah Athirah
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