Variant detail
mut_id 235 · c.687-2delA
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.687-2delA
Location
intron 6
Domain
Not available
Gene
ADAMTS13
References
Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis
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
Germany (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
unknown (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.687-2delA
nt_change
Deletion
n_bp
1
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
220
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 329 | 235 | . | 220 | cTTP | homozygous | Germany | female | unknown | unknown | <5 | unknown | unknown | none | PI |