Variant detail

mut_id 267 · c.3825C>A · p.Cys1275Ter

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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

Point nonsense_variant Likely pathogenic Residue 127
HGVS
c.3825C>A
Protein change
p.Cys1275Ter
rsID
rs782463983
ClinVar ID
3234066
GRCh38 coordinate
133456652
Location
exon 27
gnomAD AF
6.23E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Two cases of congenital thrombotic thrombocytopenicpurpura associated with pregnancy
Authors: Bai X*, Su J, Yu Z, Wang Z and Ruan C
Source: ISTH 2012 (2012)
Citation: ISTH 2012
PubMed: ISTH 2012

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 127 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3825C>A
cdna_numb_HGVS
3825
cdna_numb_legacy
3825
nt_change
C>A
n_bp
1
nuc_numb
3825
g_numb
g16
aa_numb_HGVS
127
aa_numb_legacy
127
aa_first
Cys
aa_last
Ter
aa_syn
p.Cys1275Ter
codon_first
TGC
codon_last
TGA
coordinate_GRCh38
133456652
gnomAD_AC
1
gnomAD_AN
1604616
gnomAD_AF
6.23E-07
clinvar_id
3234066
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
comments
Likely pathogenic
refState
complete
ref_id
312

Patients linked by mut_id

No linked patients found.