Variant detail

mut_id 202 · c.2549_2550delAT

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Evidence at a glance

2
Linked patients
2
Patient-variant records
2
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Deletion Deletion
HGVS
c.2549_2550delAT
Location
exon 20
Domain
Not available
Gene
ADAMTS13

References

Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma
Authors: Kentouche K, Budde U, Furlan M, Scharfe V, Schneppenheim R, Zintl F.
Source: Acta Paediatr (2002)
Citation: Acta Paediatr. 2002;91(10):1056-9. doi: 10.1080/080352502760311548.
PubMed: 12434890 · DOI: 10.1080/080352502760311548
Novel homozygous ADAMTS13 mutation with neonatal presentation of congenital thrombotic thrombocytopenic purpura in two Indian origin babies
Authors: Debaditya Das, Ming Wei Lee, Shivani Dogra, Bikramjit Das, Joyce Lam, Sudip Sengupta, Rajat Bhattacharyya
Source: Pediatric Hematology Oncology Journal (2019)
Citation: Pediatric Hematology Oncology Journal, Valume 4, Issue 1, 2019. Pages 27-29, ISSN 2468-1245
DOI: 10.1016/j.phoj.2018.12.001

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
Germany (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (1); unknown (1)
Pregnancy-related
no (1); unknown (1)
Triggers
none (2)
Treatment
PI (1); unknown (1)
ADAMTS13 activity
n=1; median=2; range=2–2
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2549_2550delAT
cdna_numb_HGVS
2549
cdna_numb_legacy
2549
nt_change
Deletion
n_bp
2
nuc_numb
2549
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
186, 305

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
249 202 304 305 cTTP compound_heterozygous Germany female <1 <1 <2 unknown no none PI
345 202 304 186 cTTP compound_heterozygous Germany unknown <1 unknown unknown unknown unknown none unknown