Unique variants in gene CST3

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

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     
-/. 1 - c.73G>A benign r.(?) p.(Ala25Thr) g.23618427C>T - CST3(NM_001288614.1):c.73G>A (p.A25T) - CST3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.105A>G benign r.(?) p.(=) g.23618395T>C - CST3(NM_000099.3):c.105A>G (p.L35=) - CST3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2 c.281T>A - r.281u>a p.Leu94Gln g.23615967A>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- - - Johan den Dunnen
?/. 1 - c.360del VUS r.(?) p.(Ala121Hisfs*16) g.23614636del - CST3(NM_001288614.2):c.360delA (p.A121Hfs*16) - CST3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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