Variant detail
mut_id 210 · c.3015delA · p.Ala1006Profs*115
Evidence at a glance
0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Deletion Deletion
HGVS
c.3015delA
Protein change
p.Ala1006Profs*115
Location
exon 23
Domain
Not available
Gene
ADAMTS13
References
PA 4.19-4Characterization of hereditary thromboticthrombocytopenic purpura (TTP) from one of bloodcenters in China
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.3015delA
cdna_numb_HGVS
3015
cdna_numb_legacy
3015
nt_change
Deletion
n_bp
1
nuc_numb
3015
g_numb
g16
aa_syn
p.Ala1006Profs*115
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
311
Patients linked by mut_id
No linked patients found.