Variant detail
mut_id 219 · c.3587delA · p.His1196Profs*30
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
Deletion Deletion
HGVS
c.3587delA
Protein change
p.His1196Profs*30
Location
exon 26
Domain
Not available
Gene
ADAMTS13
References
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review
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
unknown (1)
Treatment
PI (1)
ADAMTS13 activity
Not available
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=15; range=15–15
Platelet count
n=1; median=3; range=3–3
Variant fields
mut_syn_HGVS
c.3587delA
nt_change
Deletion
n_bp
1
g_numb
g16
aa_syn
p.His1196Profs*30
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
109
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 60 | 219 | 166 | 109 | cTTP | compound_heterozygous | USA | female | <1 | 15 | unknown | 3 | no | unknown | PI |