Variant detail

mut_id 344 · c.2674C>T · p.Gln892Ter

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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 892
HGVS
c.2674C>T
Protein change
p.Gln892Ter
rsID
rs1554792374
Location
exon 21
gnomAD AF
0.00000186
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

dbSNP

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 892 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2674C>T
cdna_numb_HGVS
2674
cdna_numb_legacy
2674
nt_change
C>T
n_bp
1
nuc_numb
2674
g_numb
g16
aa_numb_HGVS
892
aa_numb_legacy
892
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln892Ter
codon_first
CAA
codon_last
TAA
gnomAD_AC
3
gnomAD_AN
1609534
gnomAD_AF
0.00000186
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 205

Patients linked by mut_id

No linked patients found.