Variant detail
mut_id 187 · c.1783_1784delTT · p.His594Leufs*18
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.1783_1784delTT
Protein change
p.His594Leufs*18
Location
exon 15
Domain
Not available
Gene
ADAMTS13
References
ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13
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
Yemen (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=10; range=10–10
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.1783_1784delTT
cdna_numb_HGVS
1783
cdna_numb_legacy
1783
nt_change
Deletion
n_bp
2
nuc_numb
1783
g_numb
g16
aa_syn
p.His594Leufs*18
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
183
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 325 | 187 | . | 183 | cTTP | homozygous | Yemen | female | <1 | unknown | <10 | unknown | no | none | PI |