Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:

Currentness:

CST3 A25T

(CST3 Ala25Thr)

Associated with age-related macular degeneration and alzheimer’s disease.

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

dbSNP

OMIM

Macular degeneration, age-related, 11
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604312

Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_G02 from PGP sample 67180598 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Jun 23 2011 Genome Importing Robot removed [NA12156] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
May 18 2010 Madeleine Ball edited variant summary view
Feb 26 2010 Genome Importing Robot added [NA12156] view
Jan 12 2010 Abraham Rosenbaum edited variant summary view
Jan 5 2010 OMIM Importing Robot edited variant summary view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view