Variant detail

mut_id 234 · c.687-2A>G

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Evidence at a glance

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

Summary

Point Splicing
HGVS
c.687-2A>G
Location
intron 6
Domain
Not available
Gene
ADAMTS13

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Dissociation between the level of von Willebrand factor-cleaving protease activity and disease in a patient with congenital thrombotic thrombocytopenic purpura
Authors: Snider CE, Moore JC, Warkentin TE, Finch CN, Hayward CP, Kelton JG.
Source: Am J Hematol (2004)
Citation: Am J Hematol. 2004 Dec;77(4):387-90. doi: 10.1002/ajh.20221.
PubMed: 15551280 · DOI: 10.1002/ajh.20221

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
none (1)
Treatment
none (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.687-2A>G
nt_change
A>G
n_bp
1
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 172

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
311 234 . 172 cTTP homozygous Turkey male <1 post-mortem <3 unknown no none none