Variant detail
mut_id 91 · c.2050C>T · p.Gln684Ter
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 Pathogenic Residue 684
HGVS
c.2050C>T
Protein change
p.Gln684Ter
rsID
rs370121816
ClinVar ID
2997683
GRCh38 coordinate
133442480
Location
exon 17
gnomAD AF
0.00000185
Domain
TSP type-1 2
Gene
ADAMTS13
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 684 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.2050C>T
cdna_numb_HGVS
2050
cdna_numb_legacy
2050
nt_change
C>T
n_bp
1
nuc_numb
2050
g_numb
g16
aa_numb_HGVS
684
aa_numb_legacy
684
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln684Ter
codon_first
CAG
codon_last
TAG
coordinate_GRCh38
133442480
gnomAD_AC
3
gnomAD_AN
1613786
gnomAD_AF
0.00000185
clinvar_id
2997683
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332
Patients linked by mut_id
No linked patients found.