All variants in the CST3 gene

Mutations in Hereditary Amyloidosis; consortium homepage
Information The variants shown are described using the NM_000099.2 transcript reference sequence.

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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.360del r.(?) p.(Ala121HisfsTer16) - VUS g.23614636del g.23633999del CST3(NM_001288614.2):c.360delA (p.A121Hfs*16) - CST3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
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