Variant detail
mut_id 185 · c.1649_1664del · p.Gly550Alafs
Evidence at a glance
2
Linked patients
2
Patient-variant records
1
Linked references
1
Countries reported
cTTP (2)
Common phenotype
homozygous (2)
Common zygosity
Summary
Deletion Deletion
HGVS
c.1649_1664del
Protein change
p.Gly550Alafs
Location
exon 14
Domain
Not available
Gene
ADAMTS13
References
[Variety of thrombotic thrombocytopenic purpura clinical course in Polish family members with ADAMTS 13 gene mutation]
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
Saudi Arabia (2)
Phenotype
cTTP (2)
Zygosity
homozygous (2)
Sex
male (2)
Pregnancy-related
no (2)
Triggers
unknown (2)
Treatment
PI (2)
ADAMTS13 activity
n=2; median=5; range=5–5
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
n=1; median=16; range=16–16
Variant fields
mut_syn_HGVS
c.1649_1664del
nt_change
Deletion
g_numb
g16
aa_syn
p.Gly550Alafs
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
126
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 116 | 185 | . | 126 | cTTP | homozygous | Saudi Arabia | male | <1 | unknown | <5 | 16 | no | unknown | PI |
| 117 | 185 | . | 126 | cTTP | homozygous | Saudi Arabia | male | <1 | unknown | <5 | unknown | no | unknown | PI |