Variant detail

mut_id 92 · c.2058G>A · p.Trp686Ter

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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 686
HGVS
c.2058G>A
Protein change
p.Trp686Ter
GRCh38 coordinate
133442488
Location
exon 17
Domain
TSP type-1 2
Gene
ADAMTS13

External links

gnomAD

References

Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896

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 686 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2058G>A
cdna_numb_HGVS
2058
cdna_numb_legacy
2058
nt_change
G>A
n_bp
1
nuc_numb
2058
g_numb
g16
aa_numb_HGVS
686
aa_numb_legacy
686
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp686Ter
codon_first
TGG
codon_last
TGA
coordinate_GRCh38
133442488
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
205

Patients linked by mut_id

No linked patients found.