Variant detail

mut_id 164 · c.1308+2_1308+5del

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Evidence at a glance

1
Linked patients
1
Patient-variant records
2
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Deletion Splicing Likely pathogenic
HGVS
c.1308+2_1308+5del
rsID
rs1554788243
ClinVar ID
3596652
GRCh38 coordinate
133433702
Location
intron 11
gnomAD AF
0.00000124
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
The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice
Authors: De Cock E, Hermans C, De Raeymaecker J, De Ceunynck K, De Maeyer B, Vandeputte N, Vandenbulcke A, Deckmyn H, Rottensteiner H, De Maeyer M, De Meyer SF, Vanhoorelbeke K.
Source: J Thromb Haemost (2015)
Citation: J Thromb Haemost. 2015 Feb;13(2):283-92. doi: 10.1111/jth.12804. Epub 2015 Jan 17.
PubMed: 25442981 · DOI: 10.1111/jth.12804

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

Countries represented
Italy (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=37; range=37–37
Platelet count
n=1; median=22; range=22–22

Variant fields

mut_syn_HGVS
c.1308+2_1308+5del
cdna_numb_HGVS
1308
cdna_numb_legacy
1308
nt_change
Deletion
n_bp
4
nuc_numb
1308
g_numb
g16
codon_first
AGGTAGG
codon_last
AGG
coordinate_GRCh38
133433702
gnomAD_AC
2
gnomAD_AN
1613290
gnomAD_AF
0.00000124
clinvar_id
3596652
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76, 105

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
59 164 274 105 cTTP compound_heterozygous Italy female <1 37 <3 22 yes pregnancy unknown