Variant detail

mut_id 208 · c.2917_2918del · p.Arg973Asnfs*14

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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.2917_2918del
Protein change
p.Arg973Asnfs*14
Location
exon 23
Domain
Not available
Gene
ADAMTS13

References

ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome
Authors: Joly BS, Boisseau P, Roose E, Stepanian A, Biebuyck N, Hogan J, Provot F, Delmas Y, Garrec C, Vanhoorelbeke K, Coppo P, Veyradier A; French Reference Center for Thrombotic Microangiopathies.
Source: Thromb Haemost (2018)
Citation: Thromb Haemost. 2018 Nov;118(11):1902-1917. doi: 10.1055/s-0038-1673686. Epub 2018 Oct 12.
PubMed: 30312976 · DOI: 10.1055/s-0038-1673686
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896

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
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
Not available
Age of onset
n=1; median=25; range=25–25
Age of diagnosis
n=1; median=40; range=40–40
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2917_2918del
nt_change
Deletion
g_numb
g16
aa_syn
p.Arg973Asnfs*14
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
77, 205

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
340 208 129 77 cTTP compound_heterozygous Japan male 25 40 unknown no none PI