Variant detail
mut_id 238 · c.694dup · p.Leu232ProfsTer158
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
Duplication Duplication
HGVS
c.694dup
Protein change
p.Leu232ProfsTer158
Location
exon 7
Domain
Not available
Gene
ADAMTS13
References
PB1884 | Correlation between Phenotype-genotype versus in-silico Prediction of Novel and Known Disease-causing Variants in UpshawSchulman Syndrome Patients in a Single Institution of Argentina
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
India (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
Not available
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.694dup
cdna_numb_HGVS
694
cdna_numb_legacy
694
nt_change
Duplication
n_bp
1
nuc_numb
694
g_numb
g16
aa_syn
p.Leu232ProfsTer158
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
309
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 285 | 238 | 309 | 309 | cTTP | compound_heterozygous | India | female | <1 | unknown | unknown | unknown | no | none | unknown |