Variant detail

mut_id 107 · c.2404C>T · p.Gln802Ter

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point nonsense_variant Residue 802
HGVS
c.2404C>T
Protein change
p.Gln802Ter
GRCh38 coordinate
133443545
Location
exon 19
Domain
TSP type-1 3
Gene
ADAMTS13

External links

gnomAD

References

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

Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag to move, and use the mouse wheel to zoom in and out. The default view shows the full ADAMTS13 structure, with residue 802 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2404C>T
cdna_numb_HGVS
2404
cdna_numb_legacy
2404
nt_change
C>T
n_bp
1
nuc_numb
2404
g_numb
g16
aa_numb_HGVS
802
aa_numb_legacy
802
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln802Ter
codon_first
CAG
codon_last
TAG
coordinate_GRCh38
133443545
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76

Patients linked by mut_id

No linked patients found.