Variant detail

mut_id 246 · c.987+5G>A

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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

Splicing Splicing
HGVS
c.987+5G>A
Location
intron 8
gnomAD AF
0.00000126
Domain
Not available
Gene
ADAMTS13

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

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.987+5G>A
nt_change
G>A
n_bp
1
g_numb
g16
gnomAD_AC
2
gnomAD_AN
1576938
gnomAD_AF
0.00000126
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
317

Patients linked by mut_id

No linked patients found.