LOVD - Variant listings for ADAMTS2

About this overview [Show]

Patient data (#0001837)
Patient ID
Disease DAD
Reference Chen et al., 2020
Template DNA
Technique WES, WGS
Remarks This deleterious SNP is highly associated with intracranial aneurysm.
Ethnic origin Han Chinese

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 02
DNA change c.220G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation Effect Missense
Protein p.Val74Met
RNA change -
Re-site -
Frequency -
DB-ID ADAMTS2_00014

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 02 c.220G>A dbSNP Substitution Missense p.Val74Met - - - ADAMTS2_00014