Variant detail

mut_id 221 · c.365del18

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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.365del18
Location
exon 10
Domain
Not available
Gene
ADAMTS13

References

A common origin of the 4143insA ADAMTS13 mutation
Authors: Schneppenheim R, Kremer Hovinga JA, Becker T, Budde U, Karpman D, Brockhaus W, Hrachovinová I, Korczowski B, Oyen F, Rittich S, von Rosen J, Tjønnfjord GE, Pimanda JE, Wienker TF, Lämmle B.
Source: Thromb Haemost (2006)
Citation: Thromb Haemost. 2006 Jul;96(1):3-6. doi: 10.1160/TH05-12-0817.
PubMed: 16807643 · DOI: 10.1160/TH05-12-0817

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
USA (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=34; range=34–34
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.365del18
cdna_numb_HGVS
365
cdna_numb_legacy
365
nt_change
Deletion
n_bp
18
nuc_numb
365
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
165

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
262 221 133 165 cTTP compound_heterozygous USA male 34 unknown <5 unknown no none PI