Variant detail

mut_id 360 · c.825-10_843del29

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Evidence at a glance

1
Linked patients
1
Patient-variant records
3
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Deletion Deletion
HGVS
c.825-10_843del29
Location
exon 8
Domain
Not available
Gene
ADAMTS13

References

Congenital Thrombotic Thrombocytopenic Purpura: A Rare Cause of Recurrent Thrombocytopenia and Anemia
Authors: Assiri M, AlMalki A, AlHunif B, AlMofareh M.
Source: Cureus (2023)
Citation: Cureus. 2023 Sep 10;15(9):e44988. doi: 10.7759/cureus.44988. eCollection 2023 Sep.
PubMed: 37822445 · DOI: 10.7759/cureus.44988
A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom
Authors: Camilleri RS, Scully M, Thomas M, Mackie IJ, Liesner R, Chen WJ, Manns K, Machin SJ.
Source: J Thromb Haemost (2012)
Citation: J Thromb Haemost. 2012 Sep;10(9):1792-801. doi: 10.1111/j.1538-7836.2012.04852.x.
PubMed: 22783805 · DOI: 10.1111/j.1538-7836.2012.04852.x

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 (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
Not available
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.825-10_843del29
nt_change
Deletion
n_bp
29
g_numb
g16
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
12, 76, 139

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
302 360 102 12 cTTP compound_heterozygous France female unknown unknown unknown unknown yes pregnancy unknown