Variant detail
mut_id 375 · p.Trp28Leufs*111
Evidence at a glance
2
Linked patients
2
Patient-variant records
1
Linked references
2
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity
Summary
Point
Protein change
p.Trp28Leufs*111
Domain
Not available
Gene
ADAMTS13
References
Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge
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
Spain (1); Italy (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
yes (2)
Triggers
pregnancy (2)
Treatment
unknown (2)
ADAMTS13 activity
n=2; median=6; range=6–6
Age of onset
n=2; median=24; range=20–28
Age of diagnosis
Not available
Platelet count
Not available
Variant fields
g_numb
g16
aa_syn
p.Trp28Leufs*111
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
233
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 211 | 375 | 133 | 233 | cTTP | compound_heterozygous | Spain | female | 20 | unknown | <6 | unknown | yes | pregnancy | unknown |
| 212 | 375 | 133 | 233 | cTTP | compound_heterozygous | Italy | female | 28 | unknown | <6 | unknown | yes | pregnancy | unknown |