Variant detail
mut_id 352 · c.1199del
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 frameshift_variant
HGVS
c.1199del
Location
exon 10
Domain
Not available
Gene
ADAMTS13
References
Hereditary TTP/Upshaw-Schulman syndrome: the ductus arteriosus controls newborn survival
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
Iraq (1)
Phenotype
cTTP (1)
Zygosity
homozygous (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=1; range=1–1
Age of diagnosis
n=1; median=4; range=4–4
Platelet count
n=1; median=68; range=68–68
Variant fields
mut_syn_HGVS
c.1199del
cdna_numb_HGVS
1199
cdna_numb_legacy
1199
nt_change
Deletion
n_bp
1
nuc_numb
1199
g_numb
g16
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
6
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218 | 352 | . | 6 | cTTP | homozygous | Iraq | male | <1 | 4 | <1 | 68 | no | none | unknown |