Variant detail

mut_id 170 · c.106_107delAG · p.Ser36fs*102

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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
compound_heterozygous (1)
Common zygosity

Summary

Deletion Deletion
HGVS
c.106_107delAG
Protein change
p.Ser36fs*102
Location
exon 2
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
Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity
Authors: de Vries PS, Boender J, Sonneveld MA, Rivadeneira F, Ikram MA, Rottensteiner H, Hofman A, Uitterlinden AG, Leebeek FW, Franco OH, Dehghan A, de Maat MP.
Source: Blood (2015)
Citation: Blood. 2015 Jun 18;125(25):3949-55. doi: 10.1182/blood-2015-02-629865. Epub 2015 May 1.
PubMed: 25934476 · DOI: 10.1182/blood-2015-02-629865

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
Spain (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=2; range=2–2
Platelet count
n=1; median=9; range=9–9

Variant fields

mut_syn_HGVS
c.106_107delAG
nt_change
Deletion
g_numb
g16
aa_syn
p.Ser36fs*102
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 237

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
165 170 262 237 cTTP compound_heterozygous Spain male 1 2 <5 9 no infection unknown