Variant detail

mut_id 70 · c.1409G>A · p.Trp470Ter

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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 470
HGVS
c.1409G>A
Protein change
p.Trp470Ter
rsID
rs1554789233
GRCh38 coordinate
133436928
Location
exon 12
gnomAD AF
6.28E-07
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP 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 470 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1409G>A
cdna_numb_HGVS
1409
cdna_numb_legacy
1409
nt_change
G>A
n_bp
1
nuc_numb
1409
g_numb
g16
aa_numb_HGVS
470
aa_numb_legacy
470
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp470Ter
codon_first
TGG
codon_last
TAG
coordinate_GRCh38
133436928
gnomAD_AC
1
gnomAD_AN
1593532
gnomAD_AF
6.28E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76

Patients linked by mut_id

No linked patients found.