Variant detail

mut_id 209 · c.2939_2952del · p.Ala980Glyfs*3

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Evidence at a glance

0
Linked patients
0
Patient-variant records
0
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Deletion Deletion
HGVS
c.2939_2952del
Protein change
p.Ala980Glyfs*3
Location
exon 23
Domain
Not available
Gene
ADAMTS13

References

No references linked via ref_id / all_references / reference.

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.2939_2952del
nt_change
Deletion
n_bp
14
g_numb
g16
aa_syn
p.Ala980Glyfs*3
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332

Patients linked by mut_id

No linked patients found.