Variant detail
mut_id 169 · c.1016_1017delCA
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
Deletion Deletion
HGVS
c.1016_1017delCA
Location
exon 9
Domain
Not available
Gene
ADAMTS13
References
PB0637 - A first care report of congenital thrombotic thrombocytopenic purpura (cTTP) in ADAMTS13 gene in Thailand
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
Hungary (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=1; range=1–1
Age of onset
n=1; median=25; range=25–25
Age of diagnosis
Not available
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.1016_1017delCA
nt_change
Deletion
n_bp
2
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
307
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 243 | 169 | 134 | 307 | cTTP | compound_heterozygous | Hungary | male | 25 | unknown | <1 | unknown | no | none | unknown |