Variant detail

mut_id 166 · c.331-2_331-1delAG

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Evidence at a glance

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

Summary

Deletion Splicing
HGVS
c.331-2_331-1delAG
rsID
rs1554784975
GRCh38 coordinate
133425526
Location
intron 3
gnomAD AF
6.20E-07
Domain
Not available
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review
Authors: Pérez-Rodríguez A, Lourés E, Rodríguez-Trillo Á, Costa-Pinto J, García-Rivero A, Batlle-López A, Batlle J, López-Fernández MF.
Source: Thromb Res (2014)
Citation: Thromb Res. 2014 Dec;134(6):1171-5. doi: 10.1016/j.thromres.2014.09.004. Epub 2014 Sep 10.
PubMed: 25242241 · DOI: 10.1016/j.thromres.2014.09.004

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
USA (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
unknown (1)
Treatment
PI (1)
ADAMTS13 activity
Not available
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=15; range=15–15
Platelet count
n=1; median=3; range=3–3

Variant fields

mut_syn_HGVS
c.331-2_331-1delAG
cdna_numb_HGVS
331
cdna_numb_legacy
331
nt_change
Deletion
n_bp
2
nuc_numb
331
g_numb
g16
codon_first
AG
coordinate_GRCh38
133425526
gnomAD_AC
1
gnomAD_AN
1612734
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
109

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
60 166 219 109 cTTP compound_heterozygous USA female <1 15 unknown 3 no unknown PI