Variant detail

mut_id 199 · c.2420+4_2420+19del

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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.2420+4_2420+19del
Location
intron 19
gnomAD AF
0.00000439
Domain
Not available
Gene
ADAMTS13

References

Recombinant ADAMTS13 for Hereditary Thrombotic Thrombocytopenic Purpura
Authors: Asmis LM, Serra A, Krafft A, Licht A, Leisinger E, Henschkowski-Serra J, Ganter MT, Hauptmann S, Tinguely M, Kremer Hovinga JA.
Source: N Engl J Med (2022)
Citation: N Engl J Med. 2022 Dec 22;387(25):2356-2361. doi: 10.1056/NEJMoa2211113.
PubMed: 36546627 · DOI: 10.1056/NEJMoa2211113

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
Canada (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
n=1; median=32; range=32–32
Platelet count
n=1; median=13; range=13–13

Variant fields

mut_syn_HGVS
c.2420+4_2420+19del
nt_change
Deletion
n_bp
16
g_numb
g16
gnomAD_AC
10
gnomAD_AN
1544510
gnomAD_AF
0.00000439
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
22, 332

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
4 199 280 22 cTTP compound_heterozygous Canada female unknown 32 <5 13 yes pregnancy unknown