Variant detail
mut_id 207 · c.291_319delGGAGGACACAGAGCGCTATGTGCTCACCA · p.Gln97fsTer31
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.291_319delGGAGGACACAGAGCGCTATGTGCTCACCA
Protein change
p.Gln97fsTer31
Location
exon 3
Domain
Not available
Gene
ADAMTS13
References
Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge
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
Italy (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=6; range=6–6
Age of onset
n=1; median=15; range=15–15
Age of diagnosis
n=1; median=20; range=20–20
Platelet count
n=1; median=11; range=11–11
Variant fields
mut_syn_HGVS
c.291_319delGGAGGACACAGAGCGCTATGTGCTCACCA
cdna_numb_HGVS
291
cdna_numb_legacy
291
nt_change
Deletion
n_bp
29
nuc_numb
291
g_numb
g16
aa_syn
p.Gln97fsTer31
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
233
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 207 | 207 | 273 | 233 | cTTP | compound_heterozygous | Italy | male | 15 | 20 | <6 | 11 | no | infection | PI |