Variant detail

mut_id 118 · c.2785C>T · p.Gln929Ter

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Evidence at a glance

0
Linked patients
0
Patient-variant records
2
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point nonsense_variant Residue 929
HGVS
c.2785C>T
Protein change
p.Gln929Ter
GRCh38 coordinate
133448652
Location
exon 22
Domain
TSP type-1 5
Gene
ADAMTS13

External links

gnomAD

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896

Interactive AlphaFold structure

Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag to move, and use the mouse wheel to zoom in and out. The default view shows the full ADAMTS13 structure, with residue 929 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 5
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2785C>T
cdna_numb_HGVS
2785
cdna_numb_legacy
2785
nt_change
C>T
n_bp
1
nuc_numb
2785
g_numb
g16
aa_numb_HGVS
929
aa_numb_legacy
929
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln929Ter
codon_first
CAG
codon_last
TAG
coordinate_GRCh38
133448652
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 205

Patients linked by mut_id

No linked patients found.