Variant detail
mut_id 198 · c.2364-2365delGG · p.Gly788Glyfs*56
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.2364-2365delGG
Protein change
p.Gly788Glyfs*56
Location
exon 19
Domain
Not available
Gene
ADAMTS13
References
Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
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
China (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (1); male (1)
Pregnancy-related
no (2)
Triggers
none (2)
Treatment
unknown (2)
ADAMTS13 activity
n=2; median=5; range=5–5
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
n=2; median=1; range=1–1
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.2364-2365delGG
cdna_numb_HGVS
2364
cdna_numb_legacy
2364
nt_change
Deletion
nuc_numb
2364
g_numb
g16
aa_syn
p.Gly788Glyfs*56
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
304
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 254 | 198 | 204 | 304 | cTTP | compound_heterozygous | China | female | <1 | 1 | <5 | unknown | no | none | unknown |
| 257 | 198 | 220 | 304 | cTTP | compound_heterozygous | China | male | <1 | <1 | <5 | unknown | no | none | unknown |