Variant detail

mut_id 335 · c.2115G>A · p.Trp705Ter

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Evidence at a glance

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

Summary

Point nonsense_variant Residue 705
HGVS
c.2115G>A
Protein change
p.Trp705Ter
rsID
rs782400086
Location
exon 18
gnomAD AF
6.20E-07
Domain
TSP type-1 2
Gene
ADAMTS13

External links

dbSNP

References

No references linked via ref_id / all_references / reference.

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 705 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.2115G>A
cdna_numb_HGVS
2115
cdna_numb_legacy
2115
nt_change
G>A
n_bp
1
nuc_numb
2115
g_numb
g16
aa_numb_HGVS
705
aa_numb_legacy
705
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp705Ter
codon_first
TGG
codon_last
TGA
gnomAD_AC
1
gnomAD_AN
1613256
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
1

Patients linked by mut_id

No linked patients found.