Variant detail

mut_id 206 · c.2875_2876insT · p.959Lfs29

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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

Insertion Insertion
HGVS
c.2875_2876insT
Protein change
p.959Lfs29
Location
exon 23
Domain
Not available
Gene
ADAMTS13

References

Characterization and treatment of congenital thrombotic thrombocytopenic purpura
Authors: Alwan F, Vendramin C, Liesner R, Clark A, Lester W, Dutt T, Thomas W, Gooding R, Biss T, Watson HG, Cooper N, Rayment R, Cranfield T, van Veen JJ, Hill QA, Davis S, Motwani J, Bhatnagar N, Priddee N, David M, Crowley MP, Alamelu J, Lyall H, Westwood JP, Thomas M, Scully M.
Source: Blood (2019)
Citation: Blood. 2019 Apr 11;133(15):1644-1651. doi: 10.1182/blood-2018-11-884700. Epub 2019 Feb 15.
PubMed: 30770395 · DOI: 10.1182/blood-2018-11-884700

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.2875_2876insT
nt_change
Insertion
n_bp
1
g_numb
g16
aa_syn
p.959Lfs29
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
73

Patients linked by mut_id

No linked patients found.