Variant detail

mut_id 179 · c.1435+2T>G

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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

Splicing Splicing
HGVS
c.1435+2T>G
Location
intron 12
Domain
Not available
Gene
ADAMTS13

References

Genotype–Phenotype Variability in Congenital Thrombotic Thrombocytopenic Purpura (TTP): Two Novel ADAMTS13 Variants
Authors: Radhakrishnan N, Pandharipande A S, Gaire H, et al.
Source: Cureus (2025)
Citation: Cureus 17(11): e97714
PubMed: 41458739 · DOI: 10.7759/cureus.97714

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
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1435+2T>G
nt_change
T>G
n_bp
1
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
319

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
291 179 255 319 cTTP compound_heterozygous China female unknown unknown <5 unknown yes pregnancy unknown