Variant detail
mut_id 218 · c.3569-1G>A
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
Splicing Splicing
HGVS
c.3569-1G>A
Location
intron 25
Domain
Not available
Gene
ADAMTS13
References
New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood
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
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=31; range=31–31
Age of diagnosis
n=1; median=31; range=31–31
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.3569-1G>A
cdna_numb_HGVS
3569
cdna_numb_legacy
3569
nt_change
G>A
n_bp
1
nuc_numb
3569
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
61
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 25 | 218 | 156 | 61 | cTTP | compound_heterozygous | China | female | 31 | 31 | <3 | unknown | no | pregnancy | unknown |