LOVD - Variant listings for ADAMTS2

About this overview [Show]

Patient data (#0001835)
Patient ID
Disease -
Reference Iglesias et al., 2018
Template DNA
Technique WGS
Remarks This variant is associated with central corneal thickness, derived from a meta-analysis of GWAS. It has an average population frequency of 0.29 in Europeans and 0.11 in an Asian population.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Probably no pathogenicity
Exon 3i
DNA change c.688+28769dup   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation Effect Splice site
Protein -
RNA change -
Re-site -
Frequency -
DB-ID ADAMTS2_00012

1 entry in ADAMTS2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
-?/-? Unknown 3i c.688+28769dup - Duplication Splice site - - - - ADAMTS2_00012