Variant detail

mut_id 366 · c.2167C>T · p.Gln723Ter

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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

Point nonsense_variant Residue 723
HGVS
c.2167C>T
Protein change
p.Gln723Ter
GRCh38 coordinate
133442676
Location
exon 18
Domain
TSP type-1 2
Gene
ADAMTS13

External links

gnomAD

References

No references linked via ref_id / all_references / reference.

Interactive AlphaFold structure

Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag to move, and use the mouse wheel to zoom in and out. The default view shows the full ADAMTS13 structure, with residue 723 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
Domain colours match the homepage domain viewer.

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
c.2167C>T
cdna_numb_HGVS
2167
cdna_numb_legacy
2167
nt_change
C>T
n_bp
1
nuc_numb
2167
g_numb
g16
aa_numb_HGVS
723
aa_numb_legacy
723
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln723Ter
codon_first
CAG
codon_last
TAG
coordinate_GRCh38
133442676
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
276 366 367 326 cTTP compound_heterozygous France female <1 <1 unknown unknown no none none
277 366 367 326 cTTP compound_heterozygous France female <1 <1 unknown unknown no none none