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     
+/. 2 c.281T>A r.281u>a p.Leu94Gln - pathogenic g.23615967A>T g.23635330A>T AluI-, Leu68Gln - CST3_000001 first 10 aminoacids are missing from cystatin C protein isolated from the patients’ amyloid PubMed: Palsdottir 1988, Journal: Palsdottir 1988, OMIM:var0001 - rs28939068 Germline yes - AluI- 0 - Johan den Dunnen
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