Variant detail

mut_id 186 · c.173-14_173-2del12

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Evidence at a glance

0
Linked patients
0
Patient-variant records
2
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Deletion Deletion
HGVS
c.173-14_173-2del12
Location
intron 2
Domain
Not available
Gene
ADAMTS13

References

NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Authors: Sethi SK, Yadav SP, Moideen A, Raina R.
Source: J Nephrol (2024)
Citation: J Nephrol. 2024 Apr;37(3):827-829. doi: 10.1007/s40620-023-01848-w. Epub 2024 Jan 25.
PubMed: 38267796 · DOI: 10.1007/s40620-023-01848-w
A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679

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

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.173-14_173-2del12
nt_change
Deletion
n_bp
12
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 76

Patients linked by mut_id

No linked patients found.