Variant detail

mut_id 119 · c.2839C>T · p.Gln947Ter

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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 947
HGVS
c.2839C>T
Protein change
p.Gln947Ter
GRCh38 coordinate
133448706
Location
exon 22
Domain
TSP type-1 5
Gene
ADAMTS13

External links

gnomAD

References

PB0637 - A first care report of congenital thrombotic thrombocytopenic purpura (cTTP) in ADAMTS13 gene in Thailand
Source: ISTH 2024 (2024)
PubMed: ISTH 2024

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 947 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 5
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2839C>T
cdna_numb_HGVS
2839
cdna_numb_legacy
2839
nt_change
C>T
n_bp
1
nuc_numb
2839
g_numb
g16
aa_numb_HGVS
947
aa_numb_legacy
947
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln947Ter
codon_first
CAG
codon_last
TAG
coordinate_GRCh38
133448706
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
307

Patients linked by mut_id

No linked patients found.