Variant detail

mut_id 211 · c.3044+2430_3568+81del3291

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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

Deletion Deletion
HGVS
c.3044+2430_3568+81del3291
Location
exon 24, 25
Domain
Not available
Gene
ADAMTS13

References

[Novel ADAMTS13 compound heterozygous mutation in a patient with hereditary thrombotic thrombocytopenic purpura]
Authors: Wang CY, Fang XY, Shen Q.
Source: Zhonghua Er Ke Za Zhi (2016)
Citation: Zhonghua Er Ke Za Zhi. 2016 May;54(5):387-8. doi: 10.3760/cma.j.issn.0578-1310.2016.05.017.
PubMed: 27143085 · DOI: 10.3760/cma.j.issn.0578-1310.2016.05.017

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
Switzerland (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
unknown (1)
Triggers
unknown (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3044+2430_3568+81del3291
nt_change
Deletion
n_bp
3291
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
93

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
104 211 94 93 cTTP compound_heterozygous Switzerland female unknown unknown <3 unknown unknown unknown unknown