Variant detail

mut_id 225 · c.3892+1G>A

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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 Splicing Likely pathogenic
HGVS
c.3892+1G>A
rsID
rs1554796161
ClinVar ID
3065399
GRCh38 coordinate
133456720
Location
intron 27
gnomAD AF
0.00000128
Domain
Not available
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679

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.3892+1G>A
cdna_numb_HGVS
3892
cdna_numb_legacy
3892
nt_change
G>A
n_bp
1
nuc_numb
3892
g_numb
g16
coordinate_GRCh38
133456720
gnomAD_AC
2
gnomAD_AN
1558394
gnomAD_AF
0.00000128
clinvar_id
3065399
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76

Patients linked by mut_id

No linked patients found.