CST3 gene homepage

Mutations in Hereditary Amyloidosis; consortium homepage
General information
Gene symbol CST3
Gene name cystatin C
Chromosome 20
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NG_012887.2
Transcript reference NM_000099.2
Associated with diseases ARMD-11, angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI)
Citation reference(s) -
Curators (1) Dorota Rowczenio
Total number of public variants reported 7
Unique public DNA variants reported 7
Individuals with public variants 22
Hidden variants 0
Notes We acknowledge support from EURAMY for the development of this database.
Date created May 03, 2013
Date last updated September 23, 2014
Version CST3:140923

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/CST3
External URL Mutations in Hereditary Amyloidosis; consortium homepage
Graphical display APOA2 variants on cDNA sequence
HGNC 2475
Entrez Gene 1471
PubMed articles CST3
OMIM - Gene 604312
OMIM - Diseases ARMD-11 (macular degeneration, age-related, type 11 (ARMD-11))
angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI)
HGMD CST3
GeneCards CST3
GeneTests CST3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005783 20 cystatin C NM_000099.2 NP_000090.1 7


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