Variant detail
mut_id 239 · c.717delC
Evidence at a glance
2
Linked patients
2
Patient-variant records
1
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity
Summary
Deletion Deletion
HGVS
c.717delC
Location
exon 7
Domain
Not available
Gene
ADAMTS13
References
Case of maternal and fetal deaths due to severe congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) during pregnancy
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
Israel (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
male (2)
Pregnancy-related
no (2)
Triggers
infection (1); unknown (1)
Treatment
PI (2); Splenectomy (1)
ADAMTS13 activity
n=2; median=1; range=1–1
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.717delC
cdna_numb_HGVS
717
cdna_numb_legacy
717
nt_change
Deletion
n_bp
1
nuc_numb
717
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
121
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 95 | 239 | 263 | 121 | cTTP | compound_heterozygous | Israel | male | <1 | unknown | <1 | unknown | no | infection | PI |
| 96 | 239 | 263 | 121 | cTTP | compound_heterozygous | Israel | male | 1 | unknown | <1 | unknown | no | unknown | PI, Splenectomy |