Variant detail

mut_id 176 · c.1309-1G>A

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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 Splicing
HGVS
c.1309-1G>A
Location
intron 11
gnomAD AF
6.42E-07
Domain
Not available
Gene
ADAMTS13

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
An enzyme immunoassay of ADAMTS13 distinguishes patients with thrombotic thrombocytopenic purpura from normal individuals and carriers of ADAMTS13 mutations
Authors: Zhou W, Tsai HM.
Source: Thromb Haemost (2004)
Citation: Thromb Haemost. 2004 Apr;91(4):806-11. doi: 10.1160/TH03-11-0675.
PubMed: 15045144 · DOI: 10.1160/TH03-11-0675

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.1309-1G>A
cdna_numb_HGVS
1309
cdna_numb_legacy
1309
nt_change
G>A
n_bp
1
nuc_numb
1309
g_numb
g16
gnomAD_AC
1
gnomAD_AN
1557226
gnomAD_AF
6.42E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76, 176

Patients linked by mut_id

No linked patients found.