Variant detail

mut_id 85 · c.1851C>G · p.Tyr617Ter

Back Advanced search Full table

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 617
HGVS
c.1851C>G
Protein change
p.Tyr617Ter
rsID
rs371266006
GRCh38 coordinate
133440408
Location
exon 16
gnomAD AF
0.00000185
Domain
Spacer
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene
Authors: Maragliano R, Perrot A, Loget P, Combescure C, Belhomme N, Faoucher M, Dubourg C, Fradin M, Collardeau-Frachon S
Source: Virchows Arch (2025)
Citation: Virchows Arch. 2025 Aug 4. doi: 10.1007/s00428-025-04200-8
PubMed: 40760196 · DOI: 10.1007/s00428-025-04200-8

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 617 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1851C>G
cdna_numb_HGVS
1851
cdna_numb_legacy
1851
nt_change
C>G
n_bp
1
nuc_numb
1851
g_numb
g16
aa_numb_HGVS
617
aa_numb_legacy
617
aa_first
Tyr
aa_last
Ter
aa_syn
p.Tyr617Ter
codon_first
TAC
codon_last
TAG
coordinate_GRCh38
133440408
gnomAD_AC
3
gnomAD_AN
1613810
gnomAD_AF
0.00000185
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
317

Patients linked by mut_id

No linked patients found.