Variant detail
mut_id 180 · c.1436-2A>T
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
Point Splicing
HGVS
c.1436-2A>T
Location
intron 12
Domain
Not available
Gene
ADAMTS13
References
A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis
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
Switzerland (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
none (1)
ADAMTS13 activity
n=1; median=1; range=1–1
Age of onset
Not available
Age of diagnosis
n=1; median=37; range=37–37
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.1436-2A>T
nt_change
A>T
n_bp
1
g_numb
g16
gnomAD_AC
1
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
48
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 372 | 180 | 255 | 48 | cTTP | compound_heterozygous | Switzerland | female | unknown | 37 | <1 | unknown | yes | pregnancy | none |