LOVD - Variant listings for ADAMTS2

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Patient data (#0001841)
Patient ID
Disease -
Reference Bo et al., 2020
Template DNA
Technique WES
Remarks The patient was diagnosed with situs inversus totalis, and idiopathic thrombocytopenia purpura. The variant was described in the paper as an insertion at c.123_124, but is in fact a duplication of c.102_123. It was detected via exome sequencing, and thus the authors were uncertain if the patient had compound heterogeneity for another variant in ADAMTS2.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 01
DNA change c.102_123dup   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation Effect Frameshift
Protein p.Ala42Argfs*31
RNA change -
Re-site -
Frequency -
DB-ID ADAMTS2_00018

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 01 c.102_123dup - Duplication Frameshift p.Ala42Argfs*31 - - - ADAMTS2_00018