Variant detail
mut_id 248 · c.(686+1789_988-12)_(1308+159_1309-1725)dup
Evidence at a glance
1
Linked patients
1
Patient-variant records
1
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity
Summary
Duplication frameshift_variant
HGVS
c.(686+1789_988-12)_(1308+159_1309-1725)dup
Location
exon 9,10,11
Domain
Not available
Gene
ADAMTS13
References
Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis
Interactive AlphaFold structure
A residue-position-based structure view is only available when this variant has a numeric amino-acid position
in
aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.
Patient summary
Countries represented
USA (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
Koate (1)
ADAMTS13 activity
n=1; median=1; range=1–1
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
n=1; median=7; range=7–7
Variant fields
mut_syn_HGVS
c.(686+1789_988-12)_(1308+159_1309-1725)dup
nt_change
Duplication
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
2
Patients linked by mut_id
| patient_id | mut_id | compound_partner_mut_id | ref_id | phenotype | zygosity | country | sex | age_of_onset | age_of_diagnosis | ad13_activity | platelet_count | pregnancy_related | triggers | treatment |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 220 | 248 | 112 | 2 | cTTP | compound_heterozygous | USA | female | 1 | 1 | 1 | 7 | no | infection | Koate |