Variant detail

mut_id 358 · c.3769insT · Frameshift

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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.3769insT
Protein change
Frameshift
Location
exon 27
Domain
Not available
Gene
ADAMTS13

References

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399

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.3769insT
cdna_numb_HGVS
3769
cdna_numb_legacy
3769
nt_change
Insertion
n_bp
1
nuc_numb
3769
g_numb
g16
aa_syn
Frameshift
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
188

Patients linked by mut_id

No linked patients found.