Full data view for 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     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.73G>A r.(?) p.(Ala25Thr) Unknown - benign g.23618427C>T g.23637790C>T CST3(NM_001288614.1):c.73G>A (p.A25T) - CST3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.105= r.(=) p.(Leu35=) Unknown - benign g.23618395T>C g.23637758T>C CST3(NM_000099.3):c.105A>G (p.L35=) - CST3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.281T>A r.281u>a p.Leu94Gln Parent #1 - 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 - DNA SEQ, Southern blood - angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI) - PubMed: Palsdottir 1988, Journal: Palsdottir 1988 8 families, 22 patients - no Iceland - - 0 - - 22 Johan den Dunnen
?/. - c.360del r.(?) p.(Ala121HisfsTer16) Unknown - VUS g.23614636del g.23633999del CST3(NM_001288614.2):c.360delA (p.A121Hfs*16) - CST3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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