Variant detail
mut_id 232 · c.437del · p.Asn146fs
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.437del
Protein change
p.Asn146fs
Location
exon 5
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.437del
nt_change
Deletion
g_numb
g16
aa_syn
p.Asn146fs
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332
Patients linked by mut_id
No linked patients found.