Variant detail

mut_id 367 · g.133431780_133434514dup

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Evidence at a glance

2
Linked patients
2
Patient-variant records
0
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Duplication Duplication
HGVS
g.133431780_133434514dup
GRCh38 coordinate
133431780
Location
exon 9,10,11
Domain
Not available
Gene
ADAMTS13

External links

gnomAD

References

No references linked via ref_id / all_references / reference.

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
France (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
no (2)
Triggers
none (2)
Treatment
none (2)
ADAMTS13 activity
Not available
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
g.133431780_133434514dup
nt_change
Duplication
n_bp
2734
g_numb
g16
coordinate_GRCh38
133431780
g_id
g16
g_name
ADAMTS13
comments
Described in neonatal case report
refState
complete
ref_id
326

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
276 367 366 326 cTTP compound_heterozygous France female <1 <1 unknown unknown no none none
277 367 366 326 cTTP compound_heterozygous France female <1 <1 unknown unknown no none none