Variant detail

mut_id 201 · c.2455delG · p.Ala819Leufs*24

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Evidence at a glance

0
Linked patients
0
Patient-variant records
3
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Deletion Deletion
HGVS
c.2455delG
Protein change
p.Ala819Leufs*24
Location
exon 20
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
Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom
Authors: Camilleri RS, Scully M, Thomas M, Mackie IJ, Liesner R, Chen WJ, Manns K, Machin SJ.
Source: J Thromb Haemost (2012)
Citation: J Thromb Haemost. 2012 Sep;10(9):1792-801. doi: 10.1111/j.1538-7836.2012.04852.x.
PubMed: 22783805 · DOI: 10.1111/j.1538-7836.2012.04852.x

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.2455delG
cdna_numb_HGVS
2455
cdna_numb_legacy
2455
nt_change
Deletion
n_bp
1
nuc_numb
2455
g_numb
g16
aa_first
Ala
aa_last
Leu
aa_syn
p.Ala819Leufs*24
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 71, 139

Patients linked by mut_id

No linked patients found.