Variant detail

mut_id 341 · c.2317C>T · p.Gln773Ter

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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 773
HGVS
c.2317C>T
Protein change
p.Gln773Ter
rsID
rs1376759965
Location
exon 19
gnomAD AF
0.00000376
Domain
TSP type-1 3
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 773 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.2317C>T
cdna_numb_HGVS
2317
cdna_numb_legacy
2317
nt_change
C>T
n_bp
1
nuc_numb
2317
g_numb
g16
aa_numb_HGVS
773
aa_numb_legacy
773
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln773Ter
codon_first
CAG
codon_last
TAG
gnomAD_AC
6
gnomAD_AN
1592372
gnomAD_AF
0.00000376
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
1

Patients linked by mut_id

No linked patients found.