Variant detail
mut_id 196 · c.2348_2420+10del83 · p.Ala783GlyfsTer36
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.2348_2420+10del83
Protein change
p.Ala783GlyfsTer36
Location
exon 19
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=3; range=3–3
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.2348_2420+10del83
nt_change
Deletion
n_bp
83
g_numb
g16
aa_syn
p.Ala783GlyfsTer36
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 328 | 196 | . | 220 | cTTP | homozygous | Germany | female | unknown | unknown | <3 | unknown | unknown | none | PI |