Variant detail
mut_id 373 · c.1308+1G>T
Evidence at a glance
1
Linked patients
1
Patient-variant records
1
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity
Summary
Point Splicing
HGVS
c.1308+1G>T
Location
intron
Domain
Not available
Gene
ADAMTS13
References
An unusual case of rapidly progressive hyperbilirubinemia
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
Turkey (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
unknown (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=6; range=6–6
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
n=1; median=15; range=15–15
Variant fields
mut_syn_HGVS
c.1308+1G>T
nt_change
G>T
n_bp
1
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
118
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 90 | 373 | . | 118 | cTTP | homozygous | Turkey | male | <1 | 1 | <6 | 15 | no | unknown | PI |