Variant detail

mut_id 355 · c.2032C>A · p.Tyr677Ter

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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
HGVS
c.2032C>A
Protein change
p.Tyr677Ter
Location
exon 17
Domain
Not available
Gene
ADAMTS13

References

[Expert consensus on diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura in children]
Authors: Subspecialty Group of Hematology, the Society of Pediatrics, Chinese Medical Association.
Source: Zhonghua Er Ke Za Zhi (2023)
Citation: Zhonghua Er Ke Za Zhi. 2023 Apr 2;61(4):310-316. doi: 10.3760/cma.j.cn112140-20220908-00788.
PubMed: 37011975 · DOI: 10.3760/cma.j.cn112140-20220908-00788

Interactive AlphaFold structure

A residue-position-based structure view is only available when this variant has a numeric amino-acid position in aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2032C>A
cdna_numb_HGVS
2032
nt_change
C>A
n_bp
1
g_numb
g16
aa_first
Tyr
aa_last
Ter
aa_syn
p.Tyr677Ter
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
17

Patients linked by mut_id

No linked patients found.