Variant detail
mut_id 357 · c.2882delC · p.Cys962Alafs*3
Evidence at a glance
1
Linked patients
1
Patient-variant records
1
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity
Summary
Deletion Deletion
HGVS
c.2882delC
Protein change
p.Cys962Alafs*3
Location
exon 23
Domain
Not available
Gene
ADAMTS13
References
Inherited ADAMTS13 deficiency: Unique presentation and treatment
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
Saudi Arabia (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=2; range=2–2
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=2; range=2–2
Platelet count
n=1; median=99; range=99–99
Variant fields
mut_syn_HGVS
c.2882delC
nt_change
Deletion
g_numb
g16
aa_syn
p.Cys962Alafs*3
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
294
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 260 | 357 | . | 294 | cTTP | homozygous | Saudi Arabia | female | <1 | 2 | <2 | 99 | no | none | PI |